ClinVar

NM_000551.4(VHL):c.462A>G (p.Pro154=)

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: 10146635 (on Assembly GRCh38)
• Chr3: 10188319 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.462A>G (p.Pro154=)

Other names:

NP_000542.1:p.P154P

HGVS:

• NC_000003.12:g.10146635A>G
• NG_008212.3:g.10001A>G
• NG_046756.1:g.4397A>G
• NM_000551.4:c.462A>GMANE SELECT
• NM_001354723.2:c.*18-3152A>G
• NM_198156.3:c.341-3152A>G
• NP_000542.1:p.Pro154=
• NP_000542.1:p.Pro154=
• LRG_322t1:c.462A>G
• LRG_322:g.10001A>G
• LRG_322p1:p.Pro154=
• NC_000003.11:g.10188319A>G
• NM_000551.3:c.462A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1060503562

NCBI 1000 Genomes Browser:

rs1060503562

Molecular consequence:

• NM_001354723.2:c.*18-3152A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-3152A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000551.4:c.462A>G - synonymous variant - [Sequence Ontology: SO:0001819]