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Details for GLDC:c.2113G>A, p.Val705Met

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
6556242	6556242

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2113G>A

PROTEIN CHANGE

p.Val705Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0	0.0072	0.0	0.008	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003699	0.0004921	0.002689	0.009524	0.0	0.01016	0.003359	0.006845	0.002907

ESP
AA	EA
0.0004539	0.003256

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.283843	Polymorphism

DBSNP ID

1 combination linked to GLDC:c.2113G>A, p.Val705Met

1 disease linked to GLDC:c.2113G>A, p.Val705Met

Isolated anencephaly

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