ClinVar

NM_001065.4(TNFRSF1A):c.473-16G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6333163 (on Assembly GRCh38)
• Chr12: 6442329 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.473-16G>A

HGVS:

• NC_000012.12:g.6333163C>T
• NG_007506.1:g.13933G>A
• NM_001065.4:c.473-16G>AMANE SELECT
• NM_001346091.2:c.149-16G>A
• NM_001346092.2:c.-105-16G>A
• LRG_193:g.13933G>A
• NC_000012.11:g.6442329C>T
• NM_001065.2:c.473-16G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs104895251

NCBI 1000 Genomes Browser:

rs104895251

Molecular consequence:

• NM_001065.4:c.473-16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346091.2:c.149-16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346092.2:c.-105-16G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

3