ClinVar

NM_000551.4(VHL):c.525C>T (p.Tyr175=)

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: 10149848 (on Assembly GRCh38)
• Chr3: 10191532 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.525C>T (p.Tyr175=)

HGVS:

• NC_000003.12:g.10149848C>T
• NG_008212.3:g.13214C>T
• NG_046756.1:g.7610C>T
• NM_000551.4:c.525C>TMANE SELECT
• NM_001354723.2:c.*79C>T
• NM_198156.3:c.402C>T
• NP_000542.1:p.Tyr175=
• NP_937799.1:p.Tyr134=
• LRG_322t1:c.525C>T
• LRG_322:g.13214C>T
• NC_000003.11:g.10191532C>T
• NM_000551.3:c.525C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5030835

NCBI 1000 Genomes Browser:

rs5030835

Molecular consequence:

• NM_001354723.2:c.*79C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198156.3:c.402C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1