ClinVar

NM_000551.4(VHL):c.540C>T (p.Ile180=)

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: 10149863 (on Assembly GRCh38)
• Chr3: 10191547 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.540C>T (p.Ile180=)

HGVS:

• NC_000003.12:g.10149863C>T
• NG_008212.3:g.13229C>T
• NG_046756.1:g.7625C>T
• NM_000551.4:c.540C>TMANE SELECT
• NM_001354723.2:c.*94C>T
• NM_198156.3:c.417C>T
• NP_000542.1:p.Ile180=
• NP_000542.1:p.Ile180=
• NP_937799.1:p.Ile139=
• LRG_322t1:c.540C>T
• LRG_322:g.13229C>T
• LRG_322p1:p.Ile180=
• NC_000003.11:g.10191547C>T
• NM_000551.3:c.540C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374927292

NCBI 1000 Genomes Browser:

rs374927292

Molecular consequence:

• NM_001354723.2:c.*94C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.540C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198156.3:c.417C>T - synonymous variant - [Sequence Ontology: SO:0001819]