ClinVar

NM_000551.3(VHL):c.358A>G (p.Arg120Gly)

Gene:

VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10146531 (on Assembly GRCh38)
• Chr3: 10188215 (on Assembly GRCh37)

Preferred name:

NM_000551.3(VHL):c.358A>G (p.Arg120Gly)

HGVS:

• NC_000003.12:g.10146531A>G
• NG_008212.3:g.9897A>G
• NM_000551.3:c.358A>G
• NM_198156.2:c.341-3256A>G
• NP_000542.1:p.Arg120Gly
• LRG_322t1:c.358A>G
• LRG_322:g.9897A>G
• LRG_322p1:p.Arg120Gly
• NC_000003.11:g.10188215A>G
• p.[Arg120Gly]

This HGVS expression did not pass validation

Protein change:

R120G

Links:

dbSNP: rs869025642

NCBI 1000 Genomes Browser:

rs869025642

Molecular consequence:

• NM_198156.2:c.341-3256A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000551.3:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

6