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Details for IGFBP2:c.685C>A, p.Gln229Lys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
217526593	216661870

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.685C>A

PROTEIN CHANGE

p.Gln229Lys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.861568	Polymorphism

DBSNP ID

1 combination linked to IGFBP2:c.685C>A, p.Gln229Lys

1 disease linked to IGFBP2:c.685C>A, p.Gln229Lys

Disorder of sex development

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