ClinVar

NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96184366 (on Assembly GRCh38)
• Chr7: 95813678 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)

HGVS:

• NC_000007.14:g.96184366C>A
• NG_012247.2:g.142782G>T
• NM_001160210.2:c.1091G>T
• NM_014251.3:c.1088G>TMANE SELECT
• NP_001153682.1:p.Gly364Val
• NP_055066.1:p.Gly363Val
• NC_000007.13:g.95813678C>A
• NM_014251.2:c.1088G>T
• NR_027662.2:n.1114G>T

This HGVS expression did not pass validation

Protein change:

G363V

Links:

dbSNP: rs35996658

NCBI 1000 Genomes Browser:

rs35996658

Molecular consequence:

• NM_001160210.2:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014251.3:c.1088G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027662.2:n.1114G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]