ClinVar

NM_000551.4(VHL):c.497T>G (p.Val166Gly)

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: 10149820 (on Assembly GRCh38)
• Chr3: 10191504 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.497T>G (p.Val166Gly)

HGVS:

• NC_000003.12:g.10149820T>G
• NG_008212.3:g.13186T>G
• NG_046756.1:g.7582T>G
• NM_000551.4:c.497T>GMANE SELECT
• NM_001354723.2:c.*51T>G
• NM_198156.3:c.374T>G
• NP_000542.1:p.Val166Gly
• NP_000542.1:p.Val166Gly
• NP_937799.1:p.Val125Gly
• LRG_322t1:c.497T>G
• LRG_322:g.13186T>G
• LRG_322p1:p.Val166Gly
• NC_000003.11:g.10191504T>G
• NM_000551.3:c.497T>G

This HGVS expression did not pass validation

Protein change:

V125G

Links:

dbSNP: rs397516445

NCBI 1000 Genomes Browser:

rs397516445

Molecular consequence:

• NM_001354723.2:c.*51T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.497T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.374T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1