ClinVar

NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6333810 (on Assembly GRCh38)
• Chr12: 6442976 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)

HGVS:

• NC_000012.12:g.6333810C>T
• NG_007506.1:g.13286G>A
• NM_001065.4:c.249G>AMANE SELECT
• NM_001346091.2:c.-76G>A
• NM_001346092.2:c.-329G>A
• NP_001056.1:p.Glu83=
• LRG_193t1:c.249G>A
• LRG_193:g.13286G>A
• NC_000012.11:g.6442976C>T
• NM_001065.2:c.249G>A
• NM_001065.3:c.249G>A
• NR_144351.2:n.511G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs104895265

NCBI 1000 Genomes Browser:

rs104895265

Molecular consequence:

• NM_001346091.2:c.-76G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346092.2:c.-329G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_144351.2:n.511G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001065.4:c.249G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2