Variant #0000783431 (NC_000004.11:g.15581593dup, NM_001080522.2:c.3774dup (CC2D2A))
Individual ID |
00372222 |
Chromosome |
4 |
Allele |
Parent #1 |
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.15581593dup |
DNA change (hg38) |
g.15579970dup |
Published as |
NM_001080522.2:c.3774dupT |
ISCN |
- |
DB-ID |
CC2D2A_000023 See all 5 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bachmann-Gagescu 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-05-07 09:26:25 +02:00 (CEST) |
Date last edited |
2025-03-14 09:56:37 +01:00 (CET) |

Variant on transcripts
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