F2Z2X9 · F2Z2X9_HUMAN
- ProteinGalactose-1-phosphate uridylyltransferase
- GeneGALT
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids120 (go to sequence)
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs772918156 | 2 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.34646709C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646709C>T Locations: - p.Ser2Leu (Ensembl:ENST00000473506) - c.5C>T (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs1821109915 | 3 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.34646711C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646711C>T Locations: - p.Arg3Cys (Ensembl:ENST00000473506) - c.7C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1184899566 | 3 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000009.12:g.34646712G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646712G>A Locations: - p.Arg3His (Ensembl:ENST00000473506) - c.8G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1402006997 | 5 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.34646717G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646717G>A Locations: - p.Gly5Arg (Ensembl:ENST00000473506) - c.13G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs573516675 | 6 | T>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.91) Somatic: No Accession: NC_000009.12:g.34646720A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646720A>G Locations: - p.Thr6Ala (Ensembl:ENST00000473506) - c.16A>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
RCV001863384 rs1469998825 | 7 | D>Y | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.34646723G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646723G>T Locations: - p.Asp7Tyr (Ensembl:ENST00000473506) - c.19G>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
rs1821110462 | 8 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.34646727C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646727C>T Locations: - p.Pro8Leu (Ensembl:ENST00000473506) - c.23C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA259309 RCV000022040 rs111033848 | 9 | Q>* | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.34646729C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646729C>T Locations: - p.Gln9Ter (Ensembl:ENST00000473506) - c.25C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
VAR_068531 CA259311 RCV000022041 rs111033637 | 9 | Q>H | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34646731G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646731G>C Locations: - p.Gln9His (UniProt:P07902) - p.Gln9His (Ensembl:ENST00000473506) - c.27G>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
rs764584693 | 9 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.34646730A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646730A>T Locations: - p.Gln9Leu (Ensembl:ENST00000473506) - c.26A>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1172080423 | 11 | R>C | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.34646735C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646735C>T Locations: - p.Arg11Cys (Ensembl:ENST00000473506) - c.31C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1172080423 | 11 | R>G | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.34646735C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646735C>G Locations: - p.Arg11Gly (Ensembl:ENST00000473506) - c.31C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV000686259 RCV001276327 RCV002544742 rs757632977 | 11 | R>H | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Inborn genetic diseases (ClinVar) Galactosemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: tolerated - low confidence (0.2) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.34646736G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646736G>A Locations: - p.Arg11His (Ensembl:ENST00000473506) - c.32G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia - Inborn genetic diseases Source type: large scale study | |||||||
rs1821111136 | 12 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000009.12:g.34646739A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646739A>G Locations: - p.Gln12Arg (Ensembl:ENST00000473506) - c.35A>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs781347467 | 13 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.34646741C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646741C>G Locations: - p.Gln13Glu (Ensembl:ENST00000473506) - c.37C>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs781347467 | 13 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.34646741C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646741C>A Locations: - p.Gln13Lys (Ensembl:ENST00000473506) - c.37C>A (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs750690794 | 14 | A>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.34646744G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646744G>C Locations: - p.Ala14Pro (Ensembl:ENST00000473506) - c.40G>C (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs750690794 | 14 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.34646744G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646744G>A Locations: - p.Ala14Thr (Ensembl:ENST00000473506) - c.40G>A (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs1821111452 | 14 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000009.12:g.34646745C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646745C>T Locations: - p.Ala14Val (Ensembl:ENST00000473506) - c.41C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV001462608 RCV002271654 rs759270191 | 15 | S>L | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated - low confidence (0.08) Somatic: No Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.34646748C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646748C>T Locations: - p.Ser15Leu (Ensembl:ENST00000473506) - c.44C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
rs756267534 | 15 | S>T | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.34646747T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646747T>A Locations: - p.Ser15Thr (Ensembl:ENST00000473506) - c.43T>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1821111703 | 16 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.34646751A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646751A>T Locations: - p.Glu16Val (Ensembl:ENST00000473506) - c.47A>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs749374402 | 17 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000009.12:g.34646754C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646754C>T Locations: - p.Ala17Val (Ensembl:ENST00000473506) - c.50C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs2132340854 | 18 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.34646757A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646757A>G Locations: - p.Asp18Gly (Ensembl:ENST00000473506) - c.53A>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1179634471 | 19 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.34646760C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646760C>A Locations: - p.Ala19Asp (Ensembl:ENST00000473506) - c.56C>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs545621674 | 19 | A>P | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.34646759G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646759G>C Locations: - p.Ala19Pro (Ensembl:ENST00000473506) - c.55G>C (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs779003828 | 20 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000009.12:g.34646763C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646763C>G Locations: - p.Ala20Gly (Ensembl:ENST00000473506) - c.59C>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs748028316 | 22 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.34646768G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646768G>A Locations: - p.Ala22Thr (Ensembl:ENST00000473506) - c.64G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_068532 rs111033635 | 23 | T>A | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34646771A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646771A>G Locations: - p.Thr23Ala (UniProt:P07902) - p.Thr23Ala (Ensembl:ENST00000473506) - c.67A>G (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
RCV001580708 rs1365354002 | 23 | T>N | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.34646772C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646772C>A Locations: - p.Thr23Asn (Ensembl:ENST00000473506) - c.68C>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
CA10603808 RCV000316707 rs886042099 | 25 | R>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.34646778G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646778G>C Locations: - p.Arg25Pro (Ensembl:ENST00000473506) - c.74G>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1821112297 | 25 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34646777C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646777C>T Locations: - p.Arg25Trp (Ensembl:ENST00000473506) - c.73C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1235159078 | 26 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.34646781C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646781C>A Locations: - p.Ala26Glu (Ensembl:ENST00000473506) - c.77C>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs771930483 | 27 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000009.12:g.34646785C>A, NC_000009.12:g.34646785C>G Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646785C>A, NC_000009.12:g.34646785C>G Locations: - p.Asn27Lys (Ensembl:ENST00000473506) - c.81C>A (Ensembl:ENST00000473506) - c.81C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_068533 rs111033636 | 28 | D>H | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34646786G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646786G>C Locations: - p.Asp28His (UniProt:P07902) - p.Asp28His (Ensembl:ENST00000473506) - c.82G>C (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
CA261025 RCV000031852 rs111033636 | 28 | D>N | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34646786G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646786G>A Locations: - p.Asp28Asn (Ensembl:ENST00000473506) - c.82G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
VAR_002548 rs111033636 | 28 | D>Y | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34646786G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34646786G>T Locations: - p.Asp28Tyr (UniProt:P07902) - p.Asp28Tyr (Ensembl:ENST00000473506) - c.82G>T (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
RCV001998181 rs2132341442 | 29 | H>R | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647092A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647092A>G Locations: - p.His29Arg (Ensembl:ENST00000473506) - c.86A>G (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
rs111033834 | 30 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647096G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647096G>C Locations: - p.Gln30His (Ensembl:ENST00000473506) - c.90G>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1288345141 | 30 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.34647095A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647095A>C Locations: - p.Gln30Pro (Ensembl:ENST00000473506) - c.89A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA259320 RCV000585998 RCV001826488 RCV003502508 rs111033643 | 31 | H>N | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Galactosemia (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647097C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647097C>A Locations: - p.His31Asn (Ensembl:ENST00000473506) - c.91C>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia Source type: large scale study Cross-references: | |||||||
VAR_002549 rs111033644 | 32 | I>N | GALAC1; mild (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647101T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647101T>A Locations: - p.Ile32Asn (UniProt:P07902) - p.Ile32Asn (Ensembl:ENST00000473506) - c.95T>A (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
VAR_068534 CA259323 RCV000022051 rs111033829 | 33 | R>H | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647104G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647104G>A Locations: - p.Arg33His (UniProt:P07902) - p.Arg33His (Ensembl:ENST00000473506) - c.98G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
rs111033836 | 34 | Y>H | Pathogenic (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.34647106T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647106T>C Locations: - p.Tyr34His (Ensembl:ENST00000473506) - c.100T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_068535 CA259324 RCV000022052 RCV000726020 rs111033836 | 34 | Y>N | GALAC1; affects protein stability (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.34647106T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647106T>A Locations: - p.Tyr34Asn (UniProt:P07902) - p.Tyr34Asn (Ensembl:ENST00000473506) - c.100T>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
CA241292 RCV000175533 rs111033645 | 36 | P>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647113C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647113C>T Locations: - p.Pro36Leu (Ensembl:ENST00000473506) - c.107C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs774933597 | 37 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647116T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647116T>G Locations: - p.Leu37Arg (Ensembl:ENST00000473506) - c.110T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs762421661 | 38 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.34647118C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647118C>T Locations: - p.Gln38Ter (Ensembl:ENST00000473506) - c.112C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002550 RCV003062202 rs111033646 | 38 | Q>P | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647119A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647119A>C Locations: - p.Gln38Pro (UniProt:P07902) - p.Gln38Pro (Ensembl:ENST00000473506) - c.113A>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
rs1324892935 | 39 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647121G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647121G>T Locations: - p.Asp39Tyr (Ensembl:ENST00000473506) - c.115G>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1191417781 | 40 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000009.12:g.34647126G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647126G>C Locations: - p.Glu40Asp (Ensembl:ENST00000473506) - c.120G>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA10603758 RCV000591981 rs886042060 | 40 | E>K | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647124G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647124G>A Locations: - p.Glu40Lys (Ensembl:ENST00000473506) - c.118G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1450493685 | 41 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.34647127T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647127T>C Locations: - p.Trp41Arg (Ensembl:ENST00000473506) - c.121T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587237002 | 42 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647131T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647131T>C Locations: - p.Val42Ala (Ensembl:ENST00000473506) - c.125T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587237002 | 42 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647131T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647131T>G Locations: - p.Val42Gly (Ensembl:ENST00000473506) - c.125T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1564100650 | 42 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647130G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647130G>T Locations: - p.Val42Leu (Ensembl:ENST00000473506) - c.124G>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
COSV101122771 rs1587237018 | 44 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.34647137T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647137T>G Locations: - p.V44G (NCI-TCGA:ENST00000473506) - p.Val44Gly (Ensembl:ENST00000473506) - c.131T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002551 rs111033647 | 44 | V>L | GALAC1 (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647136G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647136G>T Locations: - p.Val44Leu (UniProt:P07902) - p.Val44Leu (Ensembl:ENST00000473506) - c.130G>T (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
VAR_002552 CA252845 RCV000003795 rs111033647 | 44 | V>M | GALAC1; reduced enzyme activity (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647136G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647136G>A Locations: - p.Val44Met (UniProt:P07902) - p.Val44Met (Ensembl:ENST00000473506) - c.130G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
RCV000988177 rs111033652 | 45 | S>* | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.34647140C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647140C>A Locations: - p.Ser45Ter (Ensembl:ENST00000473506) - c.134C>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
VAR_008042 CA220416 RCV000078214 RCV001851992 rs111033652 | 45 | S>L | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647140C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647140C>T Locations: - p.Ser45Leu (UniProt:P07902) - p.Ser45Leu (Ensembl:ENST00000473506) - c.134C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
RCV001802722 rs2132341560 | 45 | S>P | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647139T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647139T>C Locations: - p.Ser45Pro (Ensembl:ENST00000473506) - c.133T>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
CA10603777 RCV000322916 rs886042074 | 47 | H>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647145C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647145C>G Locations: - p.His47Asp (Ensembl:ENST00000473506) - c.139C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV001420875 rs2132341581 | 47 | H>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647146A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647146A>G Locations: - p.His47Arg (Ensembl:ENST00000473506) - c.140A>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
CA10603796 RCV000273060 RCV003463740 rs886042088 | 48 | R>C | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647148C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647148C>T Locations: - p.Arg48Cys (Ensembl:ENST00000473506) - c.142C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
rs773683290 | 48 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.34647149G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647149G>A Locations: - p.Arg48His (Ensembl:ENST00000473506) - c.143G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV002250006 rs886042088 | 48 | R>S | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647148C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647148C>A Locations: - p.Arg48Ser (Ensembl:ENST00000473506) - c.142C>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
rs776666045 | 49 | M>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647152T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647152T>G Locations: - p.Met49Arg (Ensembl:ENST00000473506) - c.146T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002553 RCV001964239 rs111033648 | 51 | R>L | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647158G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647158G>T Locations: - p.Arg51Leu (UniProt:P07902) - p.Arg51Leu (Ensembl:ENST00000473506) - c.152G>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
VAR_023328 CA259331 RCV000022061 rs111033648 | 51 | R>Q | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647158G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647158G>A Locations: - p.Arg51Gln (UniProt:P07902) - p.Arg51Gln (Ensembl:ENST00000473506) - c.152G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
RCV001526915 rs2132341621 | 52 | P>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647161C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647161C>G Locations: - p.Pro52Arg (Ensembl:ENST00000473506) - c.155C>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
RCV000672826 rs1131691837 CA373278633 RCV000492861 RCV000634555 | 53 | W>R | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely pathogenic (Ensembl) | ClinVar Ensembl dbSNP ClinGen | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647163T>C, NC_000009.12:g.34647163T>A Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647163T>C, NC_000009.12:g.34647163T>A Locations: - p.Trp53Arg (Ensembl:ENST00000473506) - c.157T>C (Ensembl:ENST00000473506) - c.157T>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
rs111033649 | 54 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.34647166C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647166C>T Locations: - p.Gln54Ter (Ensembl:ENST00000473506) - c.160C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002554 CA259334 RCV000767304 rs111033654 | 55 | G>C | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647169G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647169G>T Locations: - p.Gly55Cys (UniProt:P07902) - p.Gly55Cys (Ensembl:ENST00000473506) - c.163G>T (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
rs1262476384 | 57 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647176T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647176T>C Locations: - p.Val57Ala (Ensembl:ENST00000473506) - c.170T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1426479143 | 57 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647175G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647175G>A Locations: - p.Val57Met (Ensembl:ENST00000473506) - c.169G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA373278670 RCV000589593 RCV001276261 rs1554709147 | 58 | E>K | Galactosemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647178G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647178G>A Locations: - p.Glu58Lys (Ensembl:ENST00000473506) - c.172G>A (Ensembl:ENST00000473506) Disease association: - Galactosemia Source type: large scale study Cross-references: | |||||||
rs755200200 | 59 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.34647181C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647181C>G Locations: - p.Pro59Ala (Ensembl:ENST00000473506) - c.175C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs139056441 | 59 | P>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.34647182C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647182C>A Locations: - p.Pro59His (Ensembl:ENST00000473506) - c.176C>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs139056441 | 59 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.34647182C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647182C>G Locations: - p.Pro59Arg (Ensembl:ENST00000473506) - c.176C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002555 CA116378 RCV000003796 rs1800461 | 62 | L>M | GALT POLYMORPHISM (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647190C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647190C>A Locations: - p.Leu62Met (UniProt:P07902) - p.Leu62Met (Ensembl:ENST00000473506) - c.184C>A (Ensembl:ENST00000473506) Disease association: - GALT POLYMORPHISM Source type: mixed Cross-references: | |||||||
rs1482410758 | 63 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.34647195G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647195G>T Locations: - p.Lys63Asn (Ensembl:ENST00000473506) - c.189G>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1320577685 | 64 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.34647197C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647197C>T Locations: - p.Thr64Ile (Ensembl:ENST00000473506) - c.191C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1211267776 | 65 | V>A | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647200T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647200T>C Locations: - p.Val65Ala (Ensembl:ENST00000473506) - c.194T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1257918261 | 65 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000009.12:g.34647199G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647199G>C Locations: - p.Val65Leu (Ensembl:ENST00000473506) - c.193G>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1257918261 | 65 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647199G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647199G>A Locations: - p.Val65Met (Ensembl:ENST00000473506) - c.193G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA259335 RCV000767308 rs111033656 | 66 | P>H | Variant of uncertain significance (Ensembl) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647203C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647203C>A Locations: - p.Pro66His (Ensembl:ENST00000473506) - c.197C>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA259337 RCV000022066 RCV000767307 RCV001194273 RCV001276262 rs111033656 | 66 | P>L | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Galactosemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.34647203C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647203C>T Locations: - p.Pro66Leu (Ensembl:ENST00000473506) - c.197C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia Source type: large scale study | |||||||
rs1317678108 | 66 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647202C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647202C>T Locations: - p.Pro66Ser (Ensembl:ENST00000473506) - c.196C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002556 CA259339 RCV000022067 RCV000723719 RCV001831595 rs111033658 | 67 | R>C | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Galactosemia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647205C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647205C>T Locations: - p.Arg67Cys (UniProt:P07902) - p.Arg67Cys (Ensembl:ENST00000473506) - c.199C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
CA312560 CM012753 COSV66592761 RCV000634556 RCV003235110 rs758430398 | 67 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000003979 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647206G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647206G>A Locations: - p.R67H (NCI-TCGA:ENST00000473506) - p.Arg67His (Ensembl:ENST00000473506) - c.200G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: - NCI-TCGA: CM012753 | |||||||
CA260400 RCV000029806 RCV000723445 RCV001826519 RCV001852594 rs193922247 | 68 | H>P | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Galactosemia (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.34647209A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647209A>C Locations: - p.His68Pro (Ensembl:ENST00000473506) - c.203A>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia Source type: large scale study | |||||||
RCV000673177 rs193922247 | 68 | H>R | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Likely pathogenic (Ensembl) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647209A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647209A>G Locations: - p.His68Arg (Ensembl:ENST00000473506) - c.203A>G (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
rs777562713 | 69 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647213C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647213C>A Locations: - p.Asp69Glu (Ensembl:ENST00000473506) - c.207C>A (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs143994870 | 71 | L>F | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647217C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647217C>T Locations: - p.Leu71Phe (Ensembl:ENST00000473506) - c.211C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs143994870 | 71 | L>V | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.34647217C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647217C>G Locations: - p.Leu71Val (Ensembl:ENST00000473506) - c.211C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587237205 | 72 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647221A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647221A>C Locations: - p.Asn72Thr (Ensembl:ENST00000473506) - c.215A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002557 CA252846 RCV000003799 RCV000723459 RCV001826411 rs111033663 | 74 | L>P | GALAC1; reduced enzyme activity (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Galactosemia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647227T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647227T>C Locations: - p.Leu74Pro (UniProt:P07902) - p.Leu74Pro (Ensembl:ENST00000473506) - c.221T>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
rs111033663 | 74 | L>R | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647227T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647227T>G Locations: - p.Leu74Arg (Ensembl:ENST00000473506) - c.221T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs759260509 | 75 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647229T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647229T>G Locations: - p.Cys75Gly (Ensembl:ENST00000473506) - c.223T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs886042063 | 78 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000009.12:g.34647238G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647238G>A Locations: - p.Ala78Thr (Ensembl:ENST00000473506) - c.232G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV001802740 rs981018740 | 78 | A>V | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.34647239C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647239C>T Locations: - p.Ala78Val (Ensembl:ENST00000473506) - c.233C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
rs369739316 | 79 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000009.12:g.34647241A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647241A>G Locations: - p.Ile79Val (Ensembl:ENST00000473506) - c.235A>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs111033664 | 80 | R>* | Likely pathogenic (Ensembl) | Ensembl | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.34647244C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647244C>T Locations: - p.Arg80Ter (Ensembl:ENST00000473506) - c.238C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1821126232 | 80 | R>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647245G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647245G>C Locations: - p.Arg80Pro (Ensembl:ENST00000473506) - c.239G>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1821126232 | 80 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.34647245G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647245G>A Locations: - p.Arg80Gln (Ensembl:ENST00000473506) - c.239G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
RCV001802255 rs111033665 | 81 | A>P | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647247G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647247G>C Locations: - p.Ala81Pro (Ensembl:ENST00000473506) - c.241G>C (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study Cross-references: | |||||||
VAR_002558 rs111033665 | 81 | A>T | GALAC1 (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647247G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647247G>A Locations: - p.Ala81Thr (UniProt:P07902) - p.Ala81Thr (Ensembl:ENST00000473506) - c.241G>A (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
rs111033660 | 83 | G>R | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647253G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647253G>A Locations: - p.Gly83Arg (Ensembl:ENST00000473506) - c.247G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs972103941 | 84 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.34647257A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647257A>C Locations: - p.Glu84Ala (Ensembl:ENST00000473506) - c.251A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs2132342478 | 85 | L>P | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647542T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647542T>C Locations: - p.Leu85Pro (Ensembl:ENST00000473506) - c.254T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs367543253 | 87 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000009.12:g.34647548G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647548G>A Locations: - p.Ser87Asn (Ensembl:ENST00000473506) - c.260G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1487519949 | 89 | M>T | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000009.12:g.34647554T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647554T>C Locations: - p.Met89Thr (Ensembl:ENST00000473506) - c.266T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1821137298 | 90 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.34647556C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647556C>T Locations: - p.Pro90Ser (Ensembl:ENST00000473506) - c.268C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1262655852 | 92 | V>A | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000009.12:g.34647563T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647563T>C Locations: - p.Val92Ala (Ensembl:ENST00000473506) - c.275T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1262655852 | 92 | V>G | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000009.12:g.34647563T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647563T>G Locations: - p.Val92Gly (Ensembl:ENST00000473506) - c.275T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA16606515 RCV000439035 rs1057523885 | 94 | D>N | Variant of uncertain significance (Ensembl) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.34647657G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647657G>A Locations: - p.Asp94Asn (Ensembl:ENST00000473506) - c.280G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs111033672 | 94 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647658A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647658A>T Locations: - p.Asp94Val (Ensembl:ENST00000473506) - c.281A>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587238103 | 95 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.34647660C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647660C>G Locations: - p.Pro95Ala (Ensembl:ENST00000473506) - c.283C>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs367543254 | 96 | V>A | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000009.12:g.34647664T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647664T>C Locations: - p.Val96Ala (Ensembl:ENST00000473506) - c.287T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs752343674 | 96 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.34647663G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647663G>A Locations: - p.Val96Met (Ensembl:ENST00000473506) - c.286G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
CA10603757 RCV000299685 rs111033678 | 98 | I>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000009.12:g.34647669A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647669A>C Locations: - p.Ile98Leu (Ensembl:ENST00000473506) - c.292A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs2132342704 | 103 | Q>P | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.34647685A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647685A>C Locations: - p.Gln103Pro (Ensembl:ENST00000473506) - c.308A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_068825 rs367543252 | 103 | Q>R | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647547A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647547A>G Locations: - p.Gln103Arg (UniProt:P07902) - p.Ser87Gly (Ensembl:ENST00000473506) - c.259A>G (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
rs2132342720 | 105 | L>P | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647691T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647691T>C Locations: - p.Leu105Pro (Ensembl:ENST00000473506) - c.314T>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs777382338 | 106 | L>R | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.34647694T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647694T>G Locations: - p.Leu106Arg (Ensembl:ENST00000473506) - c.317T>G (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs1821141451 | 110 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.34647705G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647705G>A Locations: - p.Val110Ile (Ensembl:ENST00000473506) - c.328G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_068536 RCV000671407 rs367543254 | 112 | S>R | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (UniProt) | UniProt ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647664T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647664T>G Locations: - p.Ser112Arg (UniProt:P07902) - p.Val96Gly (Ensembl:ENST00000473506) - c.287T>G (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
CA5036117 RCV000325329 rs780621729 | 113 | C>Y | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647841G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647841G>A Locations: - p.Cys113Tyr (Ensembl:ENST00000473506) - c.338G>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002562 rs111033678 | 114 | H>L | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647669A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647669A>T Locations: - p.His114Leu (UniProt:P07902) - p.Ile98Phe (Ensembl:ENST00000473506) - c.292A>T (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
rs1410761611 | 114 | A>V | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.34647844C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647844C>T Locations: - p.Ala114Val (Ensembl:ENST00000473506) - c.341C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs111033684 | 115 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.34647846T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647846T>G Locations: - p.Ser115Ala (Ensembl:ENST00000473506) - c.343T>G (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs367543256 | 116 | T>I | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.34647850C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647850C>T Locations: - p.Thr116Ile (Ensembl:ENST00000473506) - c.347C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587238422 | 116 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.34647849A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647849A>C Locations: - p.Thr116Pro (Ensembl:ENST00000473506) - c.346A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs755400936 | 117 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.34647853C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647853C>T Locations: - p.Pro117Leu (Ensembl:ENST00000473506) - c.350C>T (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002563 rs111033679 | 117 | F>S | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647678T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647678T>C Locations: - p.Phe117Ser (UniProt:P07902) - p.Ser101Pro (Ensembl:ENST00000473506) - c.301T>C (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
VAR_002564 rs111033673 | 118 | Q>H | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647682A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647682A>C Locations: - p.Gln118His (UniProt:P07902) - p.Lys102Thr (Ensembl:ENST00000473506) - c.305A>C (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
rs141232328 | 119 | R>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.34647859G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647859G>C Locations: - p.Arg119Pro (Ensembl:ENST00000473506) - c.356G>C (Ensembl:ENST00000473506) Source type: large scale study | |||||||
rs141232328 | 119 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.34647859G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647859G>A Locations: - p.Arg119Gln (Ensembl:ENST00000473506) - c.356G>A (Ensembl:ENST00000473506) Source type: large scale study | |||||||
RCV001167410 rs1821146618 | 120 | M>I | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.34647863G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647863G>A Locations: - p.Met120Ile (Ensembl:ENST00000473506) - c.360G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Source type: large scale study | |||||||
rs1587238470 | 121 | *>K | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647864T>A Codon: TAA/AAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647864T>A Locations: - p.Ter121LysextTer40 (Ensembl:ENST00000473506) - c.361T>A (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs397515628 | 121 | *>L | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000009.12:g.34647864dup Codon: TAA/TTAA Consequence type: stop lost Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647864dup Locations: - p.Ter121LeufsTer? (Ensembl:ENST00000473506) - c.361dup (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
rs1587238486 | 121 | *>Y | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647866A>C Codon: TAA/TAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647866A>C Locations: - p.Ter121TyrextTer40 (Ensembl:ENST00000473506) - c.363A>C (Ensembl:ENST00000473506) Source type: large scale study Cross-references: | |||||||
VAR_002566 RCV003062203 rs111033675 | 123 | R>Q | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.34647696G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647696G>A Locations: - p.Arg123Gln (UniProt:P07902) - p.Glu107Lys (Ensembl:ENST00000473506) - c.319G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
VAR_002567 rs111033680 | 125 | V>A | GALAC1 (UniProt) | Pathogenic (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647702T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647702T>C Locations: - p.Val125Ala (UniProt:P07902) - p.Ser109Pro (Ensembl:ENST00000473506) - c.325T>C (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
VAR_008043 CA259378 RCV000724284 rs111033683 | 129 | M>T | GALAC1 (UniProt) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647840T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647840T>C Locations: - p.Met129Thr (UniProt:P07902) - p.Cys113Arg (Ensembl:ENST00000473506) - c.337T>C (Ensembl:ENST00000473506) Disease association: - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
VAR_002569 CA259379 RCV000022100 RCV000270852 rs367543255 | 130 | C>Y | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.34647843G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647843G>A Locations: - p.Cys130Tyr (UniProt:P07902) - p.Ala114Thr (Ensembl:ENST00000473506) - c.340G>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed Cross-references: | |||||||
VAR_068537 CA259383 RCV000022103 RCV000723453 rs367543256 | 132 | H>Q | GALAC1; affects protein stability (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.34647850C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647850C>A Locations: - p.His132Gln (UniProt:P07902) - p.Thr116Asn (Ensembl:ENST00000473506) - c.347C>A (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed | |||||||
VAR_002571 CA312565 RCV000003802 RCV000185915 RCV001826412 RCV002251865 RCV002512724 rs111033690 | 135 | S>L | GALAC1; about 5% of normal galactose uridylyltransferase activity (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) Inborn genetic diseases (ClinVar) Galactosemia (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.34647858C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647858C>T Locations: - p.Ser135Leu (UniProt:P07902) - p.Arg119Trp (Ensembl:ENST00000473506) - c.355C>T (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia - Galactosemia 1 (GALAC1) - Inborn genetic diseases Source type: mixed | |||||||
VAR_023329 CA259385 RCV000022105 RCV001723584 rs111033690 | 135 | S>W | GALAC1 (UniProt) Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.34647858C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.34647858C>G Locations: - p.Ser135Trp (UniProt:P07902) - p.Arg119Gly (Ensembl:ENST00000473506) - c.355C>G (Ensembl:ENST00000473506) Disease association: - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase - Galactosemia 1 (GALAC1) Source type: mixed |