Variant (rsID / SNP)

rs8042868

rs8042868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CATSPER2. Location: chromosome 15, position 43,939,642. Clinical significance in the table: Benign.

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Reference-table entries

CATSPER2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:43939642
Cytoband: 15q15.3
HGVS: NM_172095.4(CATSPER2):c.169G>A (p.Val57Ile)
Allele change: Missense_V57I

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.