CATSPER1 Chromosome 11

Cation channel sperm associated 1
11 variants 11 Health Risk

Upload your DNA to see your personal genotypes for variants in CATSPER1.

What This Gene Does
Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cation channels sperm associated|CatSpermasome complex"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000175294
Associated Conditions (2)
Spermatogenic failure 7
CATSPER1-related disorder
Key Variants
RS112725798
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS113202862
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS114764419
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS139889481
Conflicting classifications of pathogenicity
Spermatogenic failure 7, CATSPER1-related disorder, Spermatogenic failure 7
Health Risk
RS147398525
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS372082637
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS575875557
Conflicting classifications of pathogenicity
Spermatogenic failure 7, CATSPER1-related disorder, Spermatogenic failure 7
Health Risk
RS74794071
Conflicting classifications of pathogenicity
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS374112491
Likely pathogenic
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS193929390
Pathogenic
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
RS193929391
Pathogenic
Spermatogenic failure 7, Spermatogenic failure 7
Health Risk
All Variants (11)
RSID Category Clinical Significance Conditions
RS112725798 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS113202862 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS114764419 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS139889481 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, CATSPER1-related disorder, Spermatogenic failure 7
RS147398525 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS372082637 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS575875557 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, CATSPER1-related disorder, Spermatogenic failure 7
RS74794071 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS374112491 Health Risk Likely pathogenic Spermatogenic failure 7, Spermatogenic failure 7
RS193929390 Health Risk Pathogenic Spermatogenic failure 7, Spermatogenic failure 7
RS193929391 Health Risk Pathogenic Spermatogenic failure 7, Spermatogenic failure 7
Sign Up to Analyze Your DNA Log In