Variant #0000016458 (NC_000004.11:g.15572047_15572048insTG, NM_001080522.2:c.3522_3523insTG (CC2D2A))
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15572047_15572048insTG |
DNA change (hg38) |
g.15570424_15570425insTG |
Published as |
- |
ISCN |
- |
DB-ID |
CC2D2A_000016 See all 4 reported entries |
Variant remarks |
1 French MKS6 family (com-het) |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne Polvi |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Anne Polvi |
Date created |
2012-11-15 14:05:58 +01:00 (CET) |
Date last edited |
2019-02-23 21:32:01 +01:00 (CET) |

Variant on transcripts
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