ClinVar

NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96121274 (on Assembly GRCh38)
• Chr7: 95750586 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)

HGVS:

• NC_000007.14:g.96121274C>G
• NG_012247.2:g.205874G>C
• NM_001160210.2:c.1948G>C
• NM_014251.3:c.1945G>CMANE SELECT
• NP_001153682.1:p.Gly650Arg
• NP_055066.1:p.Gly649Arg
• NC_000007.13:g.95750586C>G
• NM_014251.2:c.1945G>C
• NR_027662.2:n.1971G>C

This HGVS expression did not pass validation

Protein change:

G649R

Links:

dbSNP: rs757317844

NCBI 1000 Genomes Browser:

rs757317844

Molecular consequence:

• NM_001160210.2:c.1948G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014251.3:c.1945G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027662.2:n.1971G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]