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Details for HUWE1:c.12365G>A, p.Arg4122His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
53563401	53536440

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.12365G>A

PROTEIN CHANGE

p.Arg4122His

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	Damaging	4.344183	Polymorphism

DBSNP ID

1 combination linked to HUWE1:c.12365G>A, p.Arg4122His

1 disease linked to HUWE1:c.12365G>A, p.Arg4122His

Rare pervasive developmental disorder

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