ClinVar

NM_000551.4(VHL):c.340+648T>C

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: 10142835 (on Assembly GRCh38)
• Chr3: 10184519 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.340+648T>C

HGVS:

• NC_000003.12:g.10142835T>C
• NG_008212.3:g.6201T>C
• NG_046756.1:g.597T>C
• NM_000551.4:c.340+648T>CMANE SELECT
• NM_001354723.2:c.413T>C
• NM_198156.3:c.340+648T>C
• NP_001341652.1:p.Leu138Pro
• LRG_322:g.6201T>C
• NC_000003.11:g.10184519T>C

This HGVS expression did not pass validation

Protein change:

L138P

Links:

OMIM: 608537.0032; dbSNP: rs73024533

NCBI 1000 Genomes Browser:

rs73024533

Molecular consequence:

• NM_000551.4:c.340+648T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.340+648T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354723.2:c.413T>C - missense variant - [Sequence Ontology: SO:0001583]