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Details for ADGRA3:c.3185G>C, p.Cys1062Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
22390109	22388486

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3185G>C

PROTEIN CHANGE

p.Cys1062Ser

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
7.974e-06	0.0	0.0	0.0	0.0	0.0	1.767e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.472535	Disease causing

DBSNP ID

1 combination linked to ADGRA3:c.3185G>C, p.Cys1062Ser

1 disease linked to ADGRA3:c.3185G>C, p.Cys1062Ser

Isolated anencephaly

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