Variant (rsID / SNP)

rs1203998

rs1203998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CATSPER1. Location: chromosome 11, position 65,793,454. Clinical significance in the table: Benign.

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Reference-table entries

CATSPER1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:65793454
Cytoband: 11q13.1
HGVS: NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser)
Allele change: Missense_G133S

Associated conditions / phenotypes

Spermatogenic failure 7

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.