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Details for COBL:c.998G>A, p.Arg333Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
51152961	51085264

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.998G>A

PROTEIN CHANGE

p.Arg333Gln

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
0.000658	0.0002469	0.0	0.002426	0.0	0.001218	0.0009382	0.0004944	3.275e-05

ESP
AA	EA
0.0	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.108889	Polymorphism

DBSNP ID

1 combination linked to COBL:c.998G>A, p.Arg333Gln

1 disease linked to COBL:c.998G>A, p.Arg333Gln

Isolated anencephaly

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