ClinVar

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

Gene:

SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96121309 (on Assembly GRCh38)
• Chr7: 95750621 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

Other names:

p.V637A:GTT>GCT

HGVS:

• NC_000007.14:g.96121309A>G
• NG_012247.2:g.205839T>C
• NM_001160210.2:c.1913T>C
• NM_014251.3:c.1910T>CMANE SELECT
• NP_001153682.1:p.Val638Ala
• NP_055066.1:p.Val637Ala
• NC_000007.13:g.95750621A>G
• NM_014251.2:c.1910T>C
• NR_027662.2:n.1936T>C

This HGVS expression did not pass validation

Protein change:

V637A

Links:

dbSNP: rs148962110

NCBI 1000 Genomes Browser:

rs148962110

Molecular consequence:

• NM_001160210.2:c.1913T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014251.3:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027662.2:n.1936T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]