ClinVar

NM_000551.4(VHL):c.280G>T (p.Glu94Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10142127 (on Assembly GRCh38)
• Chr3: 10183811 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.280G>T (p.Glu94Ter)

HGVS:

• NC_000003.12:g.10142127G>T
• NG_008212.3:g.5493G>T
• NM_000551.4:c.280G>TMANE SELECT
• NM_001354723.2:c.280G>T
• NM_198156.3:c.280G>T
• NP_000542.1:p.Glu94Ter
• NP_000542.1:p.Glu94Ter
• NP_001341652.1:p.Glu94Ter
• NP_937799.1:p.Glu94Ter
• LRG_322t1:c.280G>T
• LRG_322:g.5493G>T
• LRG_322p1:p.Glu94Ter
• NC_000003.11:g.10183811G>T
• NM_000551.3:c.280G>T

This HGVS expression did not pass validation

Protein change:

E94*

Links:

dbSNP: rs5030829

NCBI 1000 Genomes Browser:

rs5030829

Molecular consequence:

• NM_000551.4:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354723.2:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_198156.3:c.280G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1