Variant #0000172004 (NC_000012.11:g.108961426G>C, ISCU(NM_014301.3):c.343+382G>C)
Individual ID |
00105928 |
Chromosome |
12 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.108961426G>C |
DNA change (hg38) |
g.108567650G>C |
Published as |
IVS5+382G>C |
ISCN |
- |
DB-ID |
ISCU_000001 See all 21 reported entries |
Variant remarks |
linkage, LOD score 5.3, common haplotype |
Reference |
PubMed: Olsson 2008, OMIM:var0001 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2010-11-14 16:47:50 +01:00 (CET) |
Date last edited |
2017-06-28 22:52:40 +02:00 (CEST) |

Variant on transcripts
Screenings
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