ClinVar

NM_000551.4(VHL):c.83A>G (p.Asp28Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10141930 (on Assembly GRCh38)
• Chr3: 10183614 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.83A>G (p.Asp28Gly)

HGVS:

• NC_000003.12:g.10141930A>G
• NG_008212.3:g.5296A>G
• NM_000551.3:c.83A>G
• NM_000551.4:c.83A>GMANE SELECT
• NM_001354723.2:c.83A>G
• NM_198156.3:c.83A>G
• NP_000542.1:p.Asp28Gly
• NP_001341652.1:p.Asp28Gly
• NP_937799.1:p.Asp28Gly
• LRG_322t1:c.83A>G
• LRG_322:g.5296A>G
• NC_000003.11:g.10183614A>G

This HGVS expression did not pass validation

Protein change:

D28G

Links:

dbSNP: rs2125124629

NCBI 1000 Genomes Browser:

rs2125124629

Molecular consequence:

• NM_000551.4:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354723.2:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]