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Details for KDM6B:c.2012_2013del, p.Phe671Ter

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
7751618	7848300

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TTT

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2012_2013del

PROTEIN CHANGE

p.Phe671Ter

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
None	None	None	Disease causing

DBSNP ID

1 combination linked to KDM6B:c.2012_2013del, p.Phe671Ter

1 disease linked to KDM6B:c.2012_2013del, p.Phe671Ter

Rare pervasive developmental disorder

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