Variant (rsID / SNP)

rs104894957

rs104894957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRY. Location: chromosome Y, position 2,655,467. Clinical significance in the table: Pathogenic.

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Reference-table entries

SRYPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: Y:2655467
Cytoband: Yp11.2
HGVS: NM_003140.3(SRY):c.178G>C (p.Val60Leu)
Allele change: Missense_V60L

Associated conditions / phenotypes

46,XY sex reversal 1

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.