ClinVar

NM_000551.4(VHL):c.376G>C (p.Asp126His)

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: 10146549 (on Assembly GRCh38)
• Chr3: 10188233 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.376G>C (p.Asp126His)

HGVS:

• NC_000003.12:g.10146549G>C
• NG_008212.3:g.9915G>C
• NG_046756.1:g.4311G>C
• NM_000551.4:c.376G>CMANE SELECT
• NM_001354723.2:c.*18-3238G>C
• NM_198156.3:c.341-3238G>C
• NP_000542.1:p.Asp126His
• NP_000542.1:p.Asp126His
• LRG_322t1:c.376G>C
• LRG_322:g.9915G>C
• LRG_322p1:p.Asp126His
• NC_000003.11:g.10188233G>C
• NM_000551.3:c.376G>C

This HGVS expression did not pass validation

Protein change:

D126H

Links:

dbSNP: rs104893831

NCBI 1000 Genomes Browser:

rs104893831

Molecular consequence:

• NM_001354723.2:c.*18-3238G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-3238G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000551.4:c.376G>C - missense variant - [Sequence Ontology: SO:0001583]