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Details for GLDC:c.835C>A, p.Leu279Ile

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
6605157	6605157

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.835C>A

PROTEIN CHANGE

p.Leu279Ile

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.251004	Polymorphism

DBSNP ID

1 combination linked to GLDC:c.835C>A, p.Leu279Ile

1 disease linked to GLDC:c.835C>A, p.Leu279Ile

Craniorachischisis

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