ClinVar

NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96121699 (on Assembly GRCh38)
• Chr7: 95751011 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)

HGVS:

• NC_000007.14:g.96121699A>T
• NG_012247.2:g.205449T>A
• NM_001160210.2:c.1800T>A
• NM_014251.3:c.1797T>AMANE SELECT
• NP_001153682.1:p.Thr600=
• NP_055066.1:p.Thr599=
• NC_000007.13:g.95751011A>T
• NM_014251.2:c.1797T>A
• NR_027662.2:n.1823T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs757177279

NCBI 1000 Genomes Browser:

rs757177279

Molecular consequence:

• NR_027662.2:n.1823T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001160210.2:c.1800T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014251.3:c.1797T>A - synonymous variant - [Sequence Ontology: SO:0001819]