Variant #0000813028 (NC_000015.9:g.(?_43891761)_(43941039_?)del, NM_153700.2:c.-78_*109{0} (STRC))
Individual ID |
00384626 |
Chromosome |
15 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_43891761)_(43941039_?)del |
DNA change (hg38) |
g.(?_43599563)_(43648841_?)del |
Published as |
del STRC-CATSPER2 |
ISCN |
- |
DB-ID |
STRC_000060 |
Variant remarks |
homozygous deletion |
Reference |
PubMed: Ehrenberg 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-10-04 12:47:36 +02:00 (CEST) |
Date last edited |
2024-02-13 21:52:53 +01:00 (CET) |

Variant on transcripts
Screenings
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