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Details for IRX5:c.240_242delCTC, p.Ser81del

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
54965346	54931434

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TCTC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.240_242delCTC

PROTEIN CHANGE

p.Ser81del

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002313	8.601e-05	0.0003685	0.0006527	0.0	0.0	0.0002597	0.000943	0.0

ESP
AA	EA
0.0	0.0006638

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.461791	Polymorphism

DBSNP ID

1 combination linked to IRX5:c.240_242delCTC, p.Ser81del

1 disease linked to IRX5:c.240_242delCTC, p.Ser81del

Disorder of sex development

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