Variant #0000174651 (NC_000003.11:g.8775661C>T, NM_033337.2:c.99C>T (CAV3))

Individual ID 00108209
Chromosome 3
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.8775661C>T
DNA change (hg38) g.8733975C>T
Published as -
ISCN -
DB-ID CAV3_000016 See all 15 reported entries
Variant remarks -
Reference PubMed: Koopmann 2007
ClinVar ID -
dbSNP ID rs1008642
Origin Germline
Segregation -
Frequency -
Re-site 16/78
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.29311 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-01-25 23:18:14 +01:00 (CET)
Date last edited 2012-11-02 20:40:42 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAV3 NM_033337.2 -/. 1 c.99C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108677 DNA SEQ - - CAV3 1 Johan den Dunnen


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