Variant #0000009595 (NC_000023.10:g.110489520A>G, CAPN6(NM_014289.3):c.*285T>C)
Individual ID |
00000209 |
Chromosome |
X |
Allele |
Maternal (inferred) |
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.110489520A>G |
DNA change (hg38) |
g.111246292A>G |
Published as |
- |
ISCN |
- |
DB-ID |
CAPN6_000003 See all 2 reported entries |
Variant remarks |
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yu Sun |
Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
Created by |
Ivo F.A.C. Fokkema |

Variant on transcripts
Screenings
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