Variant (rsID / SNP)

rs371195126

rs371195126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEPTIN12. Location: chromosome 16, position 4,833,691. Clinical significance in the table: risk factor.

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Reference-table entries

SEPTIN12Risk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 16:4833691
Cytoband: 16p13.3
HGVS: NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn)
Allele change: Missense_D151N

Associated conditions / phenotypes

Spermatogenic failure 10

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.