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Details for ZDHHC11:c.676G>A, p.Val226Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
840718	840603

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.676G>A

PROTEIN CHANGE

p.Val226Met

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
7.968e-06	0.0	2.892e-05	9.929e-05	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.61685	Polymorphism

DBSNP ID

1 combination linked to ZDHHC11:c.676G>A, p.Val226Met

1 disease linked to ZDHHC11:c.676G>A, p.Val226Met

Disorder of sex development

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