ClinVar

NM_014251.3(SLC25A13):c.-115G>T

Genes:

LOC129998833:ATAC-STARR-seq lymphoblastoid silent region 18384 [Gene]
SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96322071 (on Assembly GRCh38)
• Chr7: 95951383 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.-115G>T

HGVS:

• NC_000007.14:g.96322071C>A
• NG_012247.2:g.5077G>T
• NM_001160210.2:c.-115G>T
• NM_014251.3:c.-115G>TMANE SELECT
• NC_000007.13:g.95951383C>A
• NM_014251.2:c.-115G>T
• NR_027662.2:n.28G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs543933601

NCBI 1000 Genomes Browser:

rs543933601

Molecular consequence:

• NM_001160210.2:c.-115G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_014251.3:c.-115G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_027662.2:n.28G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]