ClinVar

NM_000551.4(VHL):c.610G>C (p.Glu204Gln)

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: 10149933 (on Assembly GRCh38)
• Chr3: 10191617 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.610G>C (p.Glu204Gln)

HGVS:

• NC_000003.12:g.10149933G>C
• NG_008212.3:g.13299G>C
• NG_046756.1:g.7695G>C
• NM_000551.4:c.610G>CMANE SELECT
• NM_001354723.2:c.*164G>C
• NM_198156.3:c.487G>C
• NP_000542.1:p.Glu204Gln
• NP_000542.1:p.Glu204Gln
• NP_937799.1:p.Glu163Gln
• LRG_322t1:c.610G>C
• LRG_322:g.13299G>C
• LRG_322p1:p.Glu204Gln
• NC_000003.11:g.10191617G>C
• NM_000551.3:c.610G>C

This HGVS expression did not pass validation

Protein change:

E163Q

Links:

dbSNP: rs758853661

NCBI 1000 Genomes Browser:

rs758853661

Molecular consequence:

• NM_001354723.2:c.*164G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.610G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.487G>C - missense variant - [Sequence Ontology: SO:0001583]