ClinVar

NM_000551.4(VHL):c.500G>A (p.Arg167Gln)

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: 10149823 (on Assembly GRCh38)
• Chr3: 10191507 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.500G>A (p.Arg167Gln)

Other names:

NM_000551.4(VHL):c.500G>A

HGVS:

• NC_000003.12:g.10149823G>A
• NG_008212.3:g.13189G>A
• NG_046756.1:g.7585G>A
• NM_000551.4:c.500G>AMANE SELECT
• NM_001354723.2:c.*54G>A
• NM_198156.3:c.377G>A
• NP_000542.1:p.Arg167Gln
• NP_000542.1:p.Arg167Gln
• NP_937799.1:p.Arg126Gln
• LRG_322t1:c.500G>A
• LRG_322:g.13189G>A
• LRG_322p1:p.Arg167Gln
• NC_000003.11:g.10191507G>A
• NM_000551.3:c.500G>A
• P40337:p.Arg167Gln
• c.583C>T
• p.[Arg167Gln]

This HGVS expression did not pass validation

Protein change:

R126Q; ARG167GLN

Links:

UniProtKB: P40337#VAR_005761; OMIM: 608537.0005; dbSNP: rs5030821

NCBI 1000 Genomes Browser:

rs5030821

Molecular consequence:

• NM_001354723.2:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.500G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]