Variant #0000011705 (NC_000003.12:g.10142074_10142076del, VHL(NM_000551.3):c.227_229del)

Individual ID 00005218
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.10142074_10142076del
Reference -
DB-ID chr3_000007
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Instituto Nacional del Cancer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
VHL NM_000551.3 +/+ 1 c.227_229del p.Phe76del Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009402 DNA SEQ CEDIE Three fragments of 522, 300, and 349 bp were amplified, corresponding to exons 1, 2, and 3, respectively, of the VHL gene, located on the short arm of chromosome 3 at position 25 (3p25) 16-Jul-2025 Specific pathology VHL 1 Pablo Kalfayan-Hospital Italiano

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