ClinVar

NM_000551.4(VHL):c.394C>T (p.Gln132Ter)

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: 10146567 (on Assembly GRCh38)
• Chr3: 10188251 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.394C>T (p.Gln132Ter)

HGVS:

• NC_000003.12:g.10146567C>T
• NG_008212.3:g.9933C>T
• NG_046756.1:g.4329C>T
• NM_000551.4:c.394C>TMANE SELECT
• NM_001354723.2:c.*18-3220C>T
• NM_198156.3:c.341-3220C>T
• NP_000542.1:p.Gln132Ter
• NP_000542.1:p.Gln132Ter
• LRG_322t1:c.394C>T
• LRG_322:g.9933C>T
• LRG_322p1:p.Gln132Ter
• NC_000003.11:g.10188251C>T
• NM_000551.3:c.394C>T

This HGVS expression did not pass validation

Protein change:

Q132*

Links:

dbSNP: rs5030813

NCBI 1000 Genomes Browser:

rs5030813

Molecular consequence:

• NM_001354723.2:c.*18-3220C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-3220C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000551.4:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1