ClinVar

NM_000551.4(VHL):c.586A>T (p.Lys196Ter)

Genes:

LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10149909 (on Assembly GRCh38)
• Chr3: 10191593 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.586A>T (p.Lys196Ter)

Other names:

NM_000551.4(VHL):c.586A>T; p.Lys196Ter

HGVS:

• NC_000003.12:g.10149909A>T
• NG_008212.3:g.13275A>T
• NG_046756.1:g.7671A>T
• NM_000551.4:c.586A>TMANE SELECT
• NM_001354723.2:c.*140A>T
• NM_198156.3:c.463A>T
• NP_000542.1:p.Lys196Ter
• NP_000542.1:p.Lys196Ter
• NP_937799.1:p.Lys155Ter
• LRG_322t1:c.586A>T
• LRG_322:g.13275A>T
• LRG_322p1:p.Lys196Ter
• NC_000003.11:g.10191593A>T
• NM_000551.3:c.586A>T
• p.[Lys196*]

This HGVS expression did not pass validation

Protein change:

K155*

Links:

dbSNP: rs281860296

NCBI 1000 Genomes Browser:

rs281860296

Molecular consequence:

• NM_001354723.2:c.*140A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.586A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_198156.3:c.463A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1