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Details for GLDC:c.2852C>A, p.Ser951Tyr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
6534775	6534775

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2852C>A

PROTEIN CHANGE

p.Ser951Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003385	0.0001233	0.0002894	0.0	0.0	0.0006478	0.0004665	0.0001631	0.0001636

ESP
AA	EA
0.000227	0.0004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.263666	Polymorphism

DBSNP ID

1 combination linked to GLDC:c.2852C>A, p.Ser951Tyr

1 disease linked to GLDC:c.2852C>A, p.Ser951Tyr

Isolated anencephaly

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