Variant #0000451424 (NC_000023.10:g.153607932_153607933insCG, NC_000023.10(NM_000117.2):c.82+6_82+7insCG (EMD))
Individual ID |
00216130 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.153607932_153607933insCG |
DNA change (hg38) |
g.154379572_154379573insCG |
Published as |
- |
ISCN |
- |
DB-ID |
EMD_000063 |
Variant remarks |
- |
Reference |
PubMed: Bione |
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 |
2004-11-22 19:11:06 +01:00 (CET) |
Date last edited |
2019-01-20 16:34:15 +01:00 (CET) |

Variant on transcripts
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