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Details for DVL3:c.1622C>T, p.Pro541Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
183887917	184170129

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1622C>T

PROTEIN CHANGE

p.Pro541Leu

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
1.204e-05	0.0	0.0	0.0	0.0	0.0	1.78e-05	0.0	3.271e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.515575	Polymorphism

DBSNP ID

1 combination linked to DVL3:c.1622C>T, p.Pro541Leu

1 disease linked to DVL3:c.1622C>T, p.Pro541Leu

Isolated anencephaly

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