Variant #0000435082 (NC_000001.10:g.116275527del, NM_001232.3:c.603del (CASQ2))
Individual ID |
00204637 |
Chromosome |
1 |
Allele |
Unknown |
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.116275527del |
DNA change (hg38) |
g.115732906del |
Published as |
- |
ISCN |
- |
DB-ID |
CASQ2_000006 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Joel Lunardi |
Database submission license |
No license selected |
Created by |
Joel Lunardi |
Date created |
2011-04-20 16:39:25 +02:00 (CEST) |
Date last edited |
2020-06-04 19:11:33 +02:00 (CEST) |

Variant on transcripts
Screenings
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