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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STRC NM_153700.2 +/. _1_29_ c.-78_*109{0} r.0 p.0
CATSPER2 NM_172095.1 +/. _1_13_ c.-215_*127{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385854 DNA arraySNP;SEQ blood - RPGR 3 LOVD


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