D3Z291 · CAHM1_MOUSE
- ProteinCalcium homeostasis modulator protein 1
- GeneCalhm1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids348 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389537822 | 7 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000085.7:g.47132594A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132594A>T Locations: - p.Ile7Asn (Ensembl:ENSMUST00000111813) - c.20T>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389540979 | 25 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000085.7:g.47132539G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132539G>C Locations: - p.Ile25Met (Ensembl:ENSMUST00000111813) - c.75C>G (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389493178 | 29 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.47132528G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132528G>T Locations: - p.Ala29Asp (Ensembl:ENSMUST00000111813) - c.86C>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389544830 | 32 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000085.7:g.47132518C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132518C>G Locations: - p.Gln32His (Ensembl:ENSMUST00000111813) - c.96G>C (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389549381 | 63 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000085.7:g.47132427G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132427G>T Locations: - p.Leu63Ile (Ensembl:ENSMUST00000111813) - c.187C>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389501450 | 77 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.47132384A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132384A>T Locations: - p.Leu77Gln (Ensembl:ENSMUST00000111813) - c.230T>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389501383 | 109 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.47132289C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132289C>A Locations: - p.Ala109Ser (Ensembl:ENSMUST00000111813) - c.325G>T (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389511519 | 141 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000085.7:g.47132193T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132193T>C Locations: - p.Ser141Gly (Ensembl:ENSMUST00000111813) - c.421A>G (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389453504 | 158 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_000085.7:g.47132142C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132142C>T Locations: - p.Val158Ile (Ensembl:ENSMUST00000111813) - c.472G>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3554207382 | 180 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000085.7:g.47132076G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47132076G>A Locations: - p.Arg180Cys (Ensembl:ENSMUST00000111813) - c.538C>T (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389525250 | 188 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.47129957C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129957C>T Locations: - p.Trp188Ter (Ensembl:ENSMUST00000111813) - c.564G>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3407309697 | 215 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.47129876C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129876C>A Locations: - p.Lys215Asn (Ensembl:ENSMUST00000111813) - c.645G>T (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3409133568 | 216 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.47129875T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129875T>C Locations: - p.Ser216Gly (Ensembl:ENSMUST00000111813) - c.646A>G (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3408606487 | 216 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000085.7:g.47129874C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129874C>A Locations: - p.Ser216Ile (Ensembl:ENSMUST00000111813) - c.647G>T (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389544827 | 264 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000085.7:g.47129730C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129730C>A Locations: - p.Gly264Val (Ensembl:ENSMUST00000111813) - c.791G>T (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3389560499 | 331 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000085.7:g.47129530C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129530C>T Locations: - p.Gly331Arg (Ensembl:ENSMUST00000111813) - c.991G>A (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: | |||||||
rs3408928097 | 333 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000085.7:g.47129523T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.47129523T>C Locations: - p.Glu333Gly (Ensembl:ENSMUST00000111813) - c.998A>G (Ensembl:ENSMUST00000111813) Source type: large scale study Cross-references: |