ClinVar

NM_000551.4(VHL):c.340+714G>T

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: 10142901 (on Assembly GRCh38)
• Chr3: 10184585 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.340+714G>T

HGVS:

• NC_000003.12:g.10142901G>T
• NG_008212.3:g.6267G>T
• NG_046756.1:g.663G>T
• NM_000551.4:c.340+714G>TMANE SELECT
• NM_001354723.2:c.479G>T
• NM_198156.3:c.340+714G>T
• NP_001341652.1:p.Arg160Leu
• LRG_322:g.6267G>T
• NC_000003.11:g.10184585G>T

This HGVS expression did not pass validation

Protein change:

R160L

Links:

dbSNP: rs1054796088

NCBI 1000 Genomes Browser:

rs1054796088

Molecular consequence:

• NM_000551.4:c.340+714G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.340+714G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354723.2:c.479G>T - missense variant - [Sequence Ontology: SO:0001583]