ClinVar

NM_000551.4(VHL):c.507A>C (p.Leu169=)

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: 10149830 (on Assembly GRCh38)
• Chr3: 10191514 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.507A>C (p.Leu169=)

HGVS:

• NC_000003.12:g.10149830A>C
• NG_008212.3:g.13196A>C
• NG_046756.1:g.7592A>C
• NM_000551.4:c.507A>CMANE SELECT
• NM_001354723.2:c.*61A>C
• NM_198156.3:c.384A>C
• NP_000542.1:p.Leu169=
• NP_000542.1:p.Leu169=
• NP_937799.1:p.Leu128=
• LRG_322t1:c.507A>C
• LRG_322:g.13196A>C
• LRG_322p1:p.Leu169=
• NC_000003.11:g.10191514A>C
• NM_000551.3:c.507A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs878854126

NCBI 1000 Genomes Browser:

rs878854126

Molecular consequence:

• NM_001354723.2:c.*61A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.507A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198156.3:c.384A>C - synonymous variant - [Sequence Ontology: SO:0001819]