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Details for ZIC3:c.49G>T, p.Gly17Cys

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
136648899	137566740

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.49G>T

PROTEIN CHANGE

p.Gly17Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0039	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002595	0.0004084	0.000998	0.002378	0.0	0.005319	0.004363	0.001349	0.0001278

ESP
AA	EA
0.001312	0.003875

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.800182	Disease causing

DBSNP ID

6 combinations linked to ZIC3:c.49G>T, p.Gly17Cys

OLI149; OLI151; OLI696; OLI713; OLI722; OLI759

3 diseases linked to ZIC3:c.49G>T, p.Gly17Cys

Ventricular septal defect; Isolated anencephaly; Transposition of the great arteries

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