ClinVar

NM_001065.4(TNFRSF1A):c.-96C>T

Genes:

SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
LOC130007233:ATAC-STARR-seq lymphoblastoid active region 5850 [Gene]
TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6341910 (on Assembly GRCh38)
• Chr12: 6451076 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.-96C>T

HGVS:

• NC_000012.12:g.6341910G>A
• NG_007506.1:g.5186C>T
• NM_001065.4:c.-96C>TMANE SELECT
• NM_001346091.2:c.-266C>T
• NM_001346092.2:c.-673C>T
• LRG_193t1:c.-96C>T
• LRG_193:g.5186C>T
• NC_000012.11:g.6451076G>A
• NM_001065.3:c.-96C>T
• NR_144351.2:n.167C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs115164694

NCBI 1000 Genomes Browser:

rs115164694

Molecular consequence:

• NM_001065.4:c.-96C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346091.2:c.-266C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346092.2:c.-673C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_144351.2:n.167C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]