Variant (rsID / SNP)

rs146701338

rs146701338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CATSPER2. Location: chromosome 15, position 43,928,340. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CATSPER2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:43928340
Cytoband: 15q15.3
HGVS: NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)
Allele change: Missense_W307S

Associated conditions / phenotypes

Infertility

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.