Variant #0000062308 (NC_000003.11:g.8775526G>A, NM_033337.2:c.-37G>A (CAV3))

Individual ID 00035119
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.8775526G>A
DNA change (hg38) g.8733840G>A
Published as -
ISCN -
DB-ID CAV3_000050 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs116840771
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00283 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-06-24 19:53:43 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAV3 NM_033337.2 ?/. 1 c.-37G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035189 DNA SEQ - - CAV3 1 Andreas Laner


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