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Details for DVL1:c.310C>T, p.Pro104Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
1277795	1342415

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.310C>T

PROTEIN CHANGE

p.Pro104Ser

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
0.0001324	0.0001576	0.0	0.0	0.0	0.0	0.0	0.0001905	0.0008923

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.819501	Polymorphism

DBSNP ID

1 combination linked to DVL1:c.310C>T, p.Pro104Ser

1 disease linked to DVL1:c.310C>T, p.Pro104Ser

Isolated anencephaly

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