Variant #0000393458 (NC_000023.10:g.110491212G>A, CAPN6(NM_014289.3):c.1493C>T)

Individual ID 00172716
Chromosome X
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.110491212G>A
DNA change (hg38) g.111247984G>A
Published as -
ISCN -
DB-ID CAPN6_000012 See all 2 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00171 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-08 13:58:13 +02:00 (CEST)
Date last edited 2018-07-27 13:16:46 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN6 NM_014289.3 ?/. - c.1493C>T r.(?) p.(Thr498Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173599 DNA SEQ - - APEX2 1 Lucy Raymond