Variant (rsID / SNP)

rs137853118

rs137853118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA16. Location: chromosome 3, position 172,737,276. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPATA16Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:172737276
Cytoband: 3q26.31
HGVS: NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln)
Allele change: Missense_R283Q

Associated conditions / phenotypes

Globozoospermia

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.