ClinVar

NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr)

Gene:

TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6333459 (on Assembly GRCh38)
• Chr12: 6442625 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr)

HGVS:

• NC_000012.12:g.6333459C>T
• NG_007506.1:g.13637G>A
• NM_001065.4:c.380G>AMANE SELECT
• NM_001346091.2:c.56G>A
• NM_001346092.2:c.-198G>A
• NP_001056.1:p.Cys127Tyr
• NP_001333020.1:p.Cys19Tyr
• LRG_193:g.13637G>A
• NC_000012.11:g.6442625C>T
• NM_001065.2:c.380G>A
• NR_144351.2:n.642G>A

This HGVS expression did not pass validation

Protein change:

C127Y

Links:

dbSNP: rs104895242

NCBI 1000 Genomes Browser:

rs104895242

Molecular consequence:

• NM_001346092.2:c.-198G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001065.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346091.2:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144351.2:n.642G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]