Variant #0000374101 (NC_000011.9:g.17431532_17554222del, NC_000011.9(NM_000352.3):c.-216_2694+531del (ABCC8))
Individual ID |
00165969 |
Chromosome |
11 |
Allele |
Both (homozygous) |
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.17431532_17554222del |
DNA change (hg38) |
g.17409985_17532675del |
Published as |
105_2700del |
ISCN |
- |
DB-ID |
USH1C_000034 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bitner-Glindzicz 2000 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2010-03-04 17:55:24 +01:00 (CET) |
Date last edited |
2020-03-06 18:26:04 +01:00 (CET) |

Variant on transcripts
Screenings
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