ClinVar

NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96131786 (on Assembly GRCh38)
• Chr7: 95761098 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)

HGVS:

• NC_000007.14:g.96131786C>T
• NG_012247.2:g.195362G>A
• NM_001160210.2:c.1551G>A
• NM_014251.3:c.1548G>AMANE SELECT
• NP_001153682.1:p.Gly517=
• NP_055066.1:p.Gly516=
• NC_000007.13:g.95761098C>T
• NR_027662.2:n.1574G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs750610043

NCBI 1000 Genomes Browser:

rs750610043

Molecular consequence:

• NR_027662.2:n.1574G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001160210.2:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014251.3:c.1548G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1