F2Z2X9 · F2Z2X9_HUMAN

  • Protein
    Galactose-1-phosphate uridylyltransferase
  • Gene
    GALT
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Predicted
  • Annotation score
    1/5

Variants

1120102030405060708090100110120
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7729181562S>LExAC
TOPMed
gnomAD
rs18211099153R>CTOPMed
gnomAD
rs11848995663R>HgnomAD
rs14020069975G>RgnomAD
rs5735166756T>A1000Genomes
ExAC
gnomAD
RCV001863384
rs1469998825
7D>Y
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs18211104628P>LEnsembl
CA259309
RCV000022040
rs111033848
9Q>*
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_068531
CA259311
RCV000022041
rs111033637
9Q>H
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs7645846939Q>LExAC
gnomAD
rs117208042311R>CVariant of uncertain significance (Ensembl)TOPMed
rs117208042311R>GVariant of uncertain significance (Ensembl)TOPMed
RCV000686259
RCV001276327
RCV002544742
rs757632977
11R>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
rs182111113612Q>RTOPMed
rs78134746713Q>EExAC
TOPMed
gnomAD
rs78134746713Q>KExAC
TOPMed
gnomAD
rs75069079414A>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75069079414A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs182111145214A>VTOPMed
RCV001462608
RCV002271654
rs759270191
15S>L
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs75626753415S>TExAC
TOPMed
rs182111170316E>VEnsembl
rs74937440217A>VExAC
gnomAD
rs213234085418D>GEnsembl
rs117963447119A>DTOPMed
rs54562167419A>PVariant of uncertain significance (Ensembl)1000Genomes
ExAC
gnomAD
rs77900382820A>GExAC
TOPMed
gnomAD
rs74802831622A>TExAC
gnomAD
VAR_068532
rs111033635
23T>A
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
RCV001580708
rs1365354002
23T>N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
CA10603808
RCV000316707
rs886042099
25R>PVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs182111229725R>WgnomAD
rs123515907826A>EgnomAD
rs77193048327N>KExAC
gnomAD
VAR_068533
rs111033636
28D>H
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
CA261025
RCV000031852
rs111033636
28D>N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_002548
rs111033636
28D>Y
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
RCV001998181
rs2132341442
29H>R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs11103383430Q>HEnsembl
rs128834514130Q>PTOPMed
gnomAD
CA259320
RCV000585998
RCV001826488
RCV003502508
rs111033643
31H>N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Galactosemia (ClinVar)
Likely pathogenic (ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
VAR_002549
rs111033644
32I>N
GALAC1; mild (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
VAR_068534
CA259323
RCV000022051
rs111033829
33R>H
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs11103383634Y>HPathogenic (Ensembl)TOPMed
VAR_068535
CA259324
RCV000022052
RCV000726020
rs111033836
34Y>N
GALAC1; affects protein stability (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
CA241292
RCV000175533
rs111033645
36P>LVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs77493359737L>RExAC
gnomAD
rs76242166138Q>*ExAC
gnomAD
VAR_002550
RCV003062202
rs111033646
38Q>P
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinVar
Ensembl
dbSNP
rs132489293539D>YTOPMed
gnomAD
rs119141778140E>DTOPMed
CA10603758
RCV000591981
rs886042060
40E>KPathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs145049368541W>RgnomAD
rs158723700242V>AEnsembl
rs158723700242V>GEnsembl
rs156410065042V>LEnsembl
COSV101122771
rs1587237018
44V>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
VAR_002551
rs111033647
44V>L
GALAC1 (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
Ensembl
dbSNP
VAR_002552
CA252845
RCV000003795
rs111033647
44V>M
GALAC1; reduced enzyme activity (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV000988177
rs111033652
45S>*
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_008042
CA220416
RCV000078214
RCV001851992
rs111033652
45S>L
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001802722
rs2132341560
45S>P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA10603777
RCV000322916
rs886042074
47H>DVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
RCV001420875
rs2132341581
47H>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA10603796
RCV000273060
RCV003463740
rs886042088
48R>C
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs77368329048R>HExAC
gnomAD
RCV002250006
rs886042088
48R>S
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs77666604549M>REnsembl
VAR_002553
RCV001964239
rs111033648
51R>L
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinVar
Ensembl
dbSNP
VAR_023328
CA259331
RCV000022061
rs111033648
51R>Q
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001526915
rs2132341621
52P>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV000672826
rs1131691837
CA373278633
RCV000492861
RCV000634555
53W>R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely pathogenic (Ensembl)ClinVar
Ensembl
dbSNP
ClinGen
rs11103364954Q>*Ensembl
VAR_002554
CA259334
RCV000767304
rs111033654
55G>C
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs126247638457V>ATOPMed
rs142647914357V>MgnomAD
CA373278670
RCV000589593
RCV001276261
rs1554709147
58E>K
Galactosemia (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs75520020059P>AExAC
gnomAD
rs13905644159P>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs13905644159P>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_002555
CA116378
RCV000003796
rs1800461
62L>M
GALT POLYMORPHISM (ClinVar)
Benign (Ensembl, ClinVar)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
rs148241075863K>NTOPMed
rs132057768564T>IgnomAD
rs121126777665V>AVariant of uncertain significance (Ensembl)Ensembl
rs125791826165V>LTOPMed
rs125791826165V>MTOPMed
CA259335
RCV000767308
rs111033656
66P>HVariant of uncertain significance (Ensembl)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA259337
RCV000022066
RCV000767307
RCV001194273
RCV001276262
rs111033656
66P>L
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Galactosemia (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs131767810866P>STOPMed
VAR_002556
CA259339
RCV000022067
RCV000723719
RCV001831595
rs111033658
67R>C
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Galactosemia (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA312560
CM012753
COSV66592761
RCV000634556
RCV003235110
rs758430398
67R>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
CA260400
RCV000029806
RCV000723445
RCV001826519
RCV001852594
rs193922247
68H>P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Galactosemia (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
dbSNP
gnomAD
RCV000673177
rs193922247
68H>R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Likely pathogenic (Ensembl)ClinVar
dbSNP
gnomAD
rs77756271369D>EExAC
TOPMed
gnomAD
rs14399487071L>FVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14399487071L>VVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs158723720572N>TEnsembl
VAR_002557
CA252846
RCV000003799
RCV000723459
RCV001826411
rs111033663
74L>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
rs11103366374L>RPathogenic (Ensembl)ExAC
gnomAD
rs75926050975C>GEnsembl
rs88604206378A>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001802740
rs981018740
78A>V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs36973931679I>VESP
ExAC
TOPMed
gnomAD
rs11103366480R>*Likely pathogenic (Ensembl)Ensembl
rs182112623280R>PTOPMed
rs182112623280R>QTOPMed
RCV001802255
rs111033665
81A>P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_002558
rs111033665
81A>T
GALAC1 (UniProt)
Pathogenic (Ensembl, UniProt)UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs11103366083G>RVariant of uncertain significance (Ensembl)Ensembl
rs97210394184E>ATOPMed
gnomAD
rs213234247885L>PLikely benign (Ensembl)Ensembl
rs36754325387S>NEnsembl
rs148751994989M>TLikely benign (Ensembl)TOPMed
gnomAD
rs182113729890P>SEnsembl
rs126265585292V>ALikely benign (Ensembl)gnomAD
rs126265585292V>GLikely benign (Ensembl)gnomAD
CA16606515
RCV000439035
rs1057523885
94D>NVariant of uncertain significance (Ensembl)ClinGen
ClinVar
Ensembl
dbSNP
rs11103367294D>VEnsembl
rs158723810395P>AEnsembl
rs36754325496V>AVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs75234367496V>MExAC
gnomAD
CA10603757
RCV000299685
rs111033678
98I>LVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs2132342704103Q>PLikely benign (Ensembl)Ensembl
VAR_068825
rs367543252
103Q>R
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
rs2132342720105L>PLikely benign (Ensembl)Ensembl
rs777382338106L>RLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs1821141451110V>IgnomAD
VAR_068536
RCV000671407
rs367543254
112S>R
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (UniProt)UniProt
ClinVar
ExAC
dbSNP
gnomAD
CA5036117
RCV000325329
rs780621729
113C>YVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_002562
rs111033678
114H>L
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
rs1410761611114A>VLikely benign (Ensembl)TOPMed
gnomAD
rs111033684115S>AEnsembl
rs367543256116T>IPathogenic (Ensembl)ExAC
gnomAD
rs1587238422116T>PEnsembl
rs755400936117P>LExAC
gnomAD
VAR_002563
rs111033679
117F>S
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
VAR_002564
rs111033673
118Q>H
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
rs141232328119R>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs141232328119R>QVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
RCV001167410
rs1821146618
120M>I
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs1587238470121*>KEnsembl
rs397515628121*>LEnsembl
rs1587238486121*>YEnsembl
VAR_002566
RCV003062203
rs111033675
123R>Q
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinVar
TOPMed
dbSNP
gnomAD
VAR_002567
rs111033680
125V>A
GALAC1 (UniProt)
Pathogenic (UniProt)UniProt
Ensembl
dbSNP
VAR_008043
CA259378
RCV000724284
rs111033683
129M>T
GALAC1 (UniProt)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
dbSNP
gnomAD
VAR_002569
CA259379
RCV000022100
RCV000270852
rs367543255
130C>Y
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
VAR_068537
CA259383
RCV000022103
RCV000723453
rs367543256
132H>Q
GALAC1; affects protein stability (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ExAC
dbSNP
gnomAD
VAR_002571
CA312565
RCV000003802
RCV000185915
RCV001826412
RCV002251865
RCV002512724
rs111033690
135S>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
VAR_023329
CA259385
RCV000022105
RCV001723584
rs111033690
135S>W
GALAC1 (UniProt)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
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