ClinVar

NM_000551.4(VHL):c.612G>A (p.Glu204=)

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: 10149935 (on Assembly GRCh38)
• Chr3: 10191619 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.612G>A (p.Glu204=)

HGVS:

• NC_000003.12:g.10149935G>A
• NG_008212.3:g.13301G>A
• NG_046756.1:g.7697G>A
• NM_000551.4:c.612G>AMANE SELECT
• NM_001354723.2:c.*166G>A
• NM_198156.3:c.489G>A
• NP_000542.1:p.Glu204=
• NP_000542.1:p.Glu204=
• NP_937799.1:p.Glu163=
• LRG_322t1:c.612G>A
• LRG_322:g.13301G>A
• LRG_322p1:p.Glu204=
• NC_000003.11:g.10191619G>A
• NM_000551.3:c.612G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs747805018

NCBI 1000 Genomes Browser:

rs747805018

Molecular consequence:

• NM_001354723.2:c.*166G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198156.3:c.489G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1