ClinVar

NM_001065.4(TNFRSF1A):c.40-217G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6334461 (on Assembly GRCh38)
• Chr12: 6443627 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.40-217G>A

HGVS:

• NC_000012.12:g.6334461C>T
• NG_007506.1:g.12635G>A
• NM_001065.4:c.40-217G>AMANE SELECT
• NM_001346091.2:c.-131-596G>A
• NM_001346092.2:c.-538-217G>A
• LRG_193:g.12635G>A
• NC_000012.11:g.6443627C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs77949925

NCBI 1000 Genomes Browser:

rs77949925

Molecular consequence:

• NM_001065.4:c.40-217G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346091.2:c.-131-596G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346092.2:c.-538-217G>A - intron variant - [Sequence Ontology: SO:0001627]