ClinVar

NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)

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: 96321955 (on Assembly GRCh38)
• Chr7: 95951267 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)

Other names:

p.Met1?

HGVS:

• NC_000007.14:g.96321955A>G
• NG_012247.2:g.5193T>C
• NM_001160210.2:c.2T>C
• NM_014251.3:c.2T>CMANE SELECT
• NP_001153682.1:p.Met1Thr
• NP_055066.1:p.Met1Thr
• NC_000007.13:g.95951267A>G
• NM_014251.2:c.2T>C
• NR_027662.2:n.144T>C

This HGVS expression did not pass validation

Protein change:

M1T

Links:

dbSNP: rs541276426

NCBI 1000 Genomes Browser:

rs541276426

Molecular consequence:

• NM_001160210.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_014251.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001160210.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014251.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027662.2:n.144T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]