ClinVar

NM_000551.4(VHL):c.420C>A (p.Leu140=)

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: 10146593 (on Assembly GRCh38)
• Chr3: 10188277 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.420C>A (p.Leu140=)

HGVS:

• NC_000003.12:g.10146593C>A
• NG_008212.3:g.9959C>A
• NG_046756.1:g.4355C>A
• NM_000551.4:c.420C>AMANE SELECT
• NM_001354723.2:c.*18-3194C>A
• NM_198156.3:c.341-3194C>A
• NP_000542.1:p.Leu140=
• NP_000542.1:p.Leu140=
• LRG_322t1:c.420C>A
• LRG_322:g.9959C>A
• LRG_322p1:p.Leu140=
• NC_000003.11:g.10188277C>A
• NM_000551.3:c.420C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs369465430

NCBI 1000 Genomes Browser:

rs369465430

Molecular consequence:

• NM_001354723.2:c.*18-3194C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-3194C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000551.4:c.420C>A - synonymous variant - [Sequence Ontology: SO:0001819]