ClinVar

NM_000551.4(VHL):c.277G>C (p.Gly93Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10142124 (on Assembly GRCh38)
• Chr3: 10183808 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.277G>C (p.Gly93Arg)

HGVS:

• NC_000003.12:g.10142124G>C
• NG_008212.3:g.5490G>C
• NM_000551.4:c.277G>CMANE SELECT
• NM_001354723.2:c.277G>C
• NM_198156.3:c.277G>C
• NP_000542.1:p.Gly93Arg
• NP_000542.1:p.Gly93Arg
• NP_001341652.1:p.Gly93Arg
• NP_937799.1:p.Gly93Arg
• LRG_322t1:c.277G>C
• LRG_322:g.5490G>C
• LRG_322p1:p.Gly93Arg
• NC_000003.11:g.10183808G>C
• NM_000551.3:c.277G>C
• p.[Gly93Arg]

This HGVS expression did not pass validation

Protein change:

G93R

Links:

dbSNP: rs5030808

NCBI 1000 Genomes Browser:

rs5030808

Molecular consequence:

• NM_000551.4:c.277G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354723.2:c.277G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.277G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1