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Details for FZD2:c.121C>T, p.Pro41Ser

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
42635177	44557809

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.121C>T

PROTEIN CHANGE

p.Pro41Ser

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	0.0	0.0	0.0	0.0	1.765e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.699788	Disease causing

DBSNP ID

1 combination linked to FZD2:c.121C>T, p.Pro41Ser

1 disease linked to FZD2:c.121C>T, p.Pro41Ser

Isolated anencephaly

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