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 International |
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) |

Variant on transcripts
Screenings
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