ClinVar

NM_001065.4(TNFRSF1A):c.1012C>T (p.Leu338Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6329823 (on Assembly GRCh38)
• Chr12: 6438989 (on Assembly GRCh37)

Preferred name:

NM_001065.4(TNFRSF1A):c.1012C>T (p.Leu338Phe)

HGVS:

• NC_000012.12:g.6329823G>A
• NG_007506.1:g.17273C>T
• NM_001065.4:c.1012C>TMANE SELECT
• NM_001346091.2:c.688C>T
• NM_001346092.2:c.553C>T
• NP_001056.1:p.Leu338Phe
• NP_001333020.1:p.Leu230Phe
• NP_001333021.1:p.Leu185Phe
• LRG_193t1:c.1012C>T
• LRG_193:g.17273C>T
• NC_000012.11:g.6438989G>A
• NM_001065.3:c.1012C>T
• NR_144351.2:n.1200C>T

This HGVS expression did not pass validation

Protein change:

L185F

Links:

dbSNP: rs1251500082

NCBI 1000 Genomes Browser:

rs1251500082

Molecular consequence:

• NM_001065.4:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346091.2:c.688C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346092.2:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_144351.2:n.1200C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]