SRY Chromosome Y

Sex determining region Y

34 variants 34 Health Risk

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What This Gene Does

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

SRY-box transcription factors

Locus Type

gene with protein product

Location

Yp11.2

Ensembl

ENSG00000184895

Associated Conditions (6)

XY sex reversal 1

XX sex reversal 1

SRY-related disorder

XY disorder of sex development

XY TRUE HERMAPHRODITISM

Key Variants

RS104894969

Likely pathogenic

46, XY sex reversal 1, 46

Health Risk

RS1057519627

Likely pathogenic

46, XY sex reversal 1, 46

Health Risk

RS1556370558

Likely pathogenic

46, XY sex reversal 1, 46

Health Risk

RS2124486090

Likely pathogenic

46, XX sex reversal 1, 46

Health Risk

Health Risk

46, XY sex reversal 1, 46

Health Risk

RS2124486291

Likely pathogenic

46, XY disorder of sex development, 46

Health Risk

RS104894956

Pathogenic

46, XY sex reversal 1, 46

Health Risk

RS104894957

Pathogenic

46, XY sex reversal 1, 46

Health Risk

RS104894958

Pathogenic

46, XY sex reversal 1, 46

Health Risk

RS104894959

Pathogenic

46, XY sex reversal 1, XY TRUE HERMAPHRODITISM

Health Risk

RS104894964

Pathogenic

46, XY sex reversal 1, 46

Health Risk

All Variants (34)

RSID	Category	Clinical Significance	Conditions
RS104894969	Health Risk	Likely pathogenic	46, XY sex reversal 1, 46
RS1057519627	Health Risk	Likely pathogenic	46, XY sex reversal 1, 46
RS1556370558	Health Risk	Likely pathogenic	46, XY sex reversal 1, 46
RS2124486090	Health Risk	Likely pathogenic	46, XX sex reversal 1, 46
RS2124486144	Health Risk	Likely pathogenic	SRY-related disorder, SRY-related disorder
RS2124486256	Health Risk	Likely pathogenic	46, XY sex reversal 1, 46
RS2124486291	Health Risk	Likely pathogenic	46, XY disorder of sex development, 46
RS104894956	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894957	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894958	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894959	Health Risk	Pathogenic	46, XY sex reversal 1, XY TRUE HERMAPHRODITISM
RS104894964	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894965	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894966	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894967	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894968	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894970	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894971	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894972	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894973	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894974	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894975	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894976	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS104894977	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS1556370543	Health Risk	Pathogenic	46, XY sex reversal 1, XX sex reversal 1
RS1556370548	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS1556370556	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS1556370576	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS1603308308	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS2124486099	Health Risk	Pathogenic	SRY-related disorder, SRY-related disorder
RS2124486390	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS2521870550	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS606231178	Health Risk	Pathogenic	46, XY sex reversal 1, 46
RS606231179	Health Risk	Pathogenic	46, XY sex reversal 1, 46