ClinVar

NM_002496.4(NDUFS8):c.*14C>T

Genes:

TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
NDUFS8:NADH:ubiquinone oxidoreductase core subunit S8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 68036607 (on Assembly GRCh38)
• Chr11: 67804074 (on Assembly GRCh37)

Preferred name:

NM_002496.4(NDUFS8):c.*14C>T

HGVS:

• NC_000011.10:g.68036607C>T
• NG_007878.1:g.2592C>T
• NG_017040.1:g.10991C>T
• NM_002496.4:c.*14C>TMANE SELECT
• LRG_115:g.2592C>T
• NC_000011.9:g.67804074C>T
• NM_002496.3:c.*14C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1051806

NCBI 1000 Genomes Browser:

rs1051806

Molecular consequence:

• NM_002496.4:c.*14C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]