Variant #0000924005 (NC_000003.11:g.8775564T>C, NM_033337.2:c.2T>C (CAV3))

Chromosome 3
Allele Unknown
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.8775564T>C
DNA change (hg38) -
Published as CAV3(NM_033337.3):c.2T>C (p.M1?)
ISCN -
DB-ID CAV3_000135
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2023-04-16 21:50:28 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SSUH2 NM_015931.2 ?/. - c.-82073A>G r.(?) p.(=)
CAV3 NM_033337.2 ?/. - c.2T>C r.(?) p.(Met1?)


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