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Details for COBL:c.3010C>G, p.Gln1004Glu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
51095783	51028086

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3010C>G

PROTEIN CHANGE

p.Gln1004Glu

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
5.976e-05	0.000123	0.0	0.0	0.0	0.0	0.0001146	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	0.83275	Polymorphism

DBSNP ID

1 combination linked to COBL:c.3010C>G, p.Gln1004Glu

1 disease linked to COBL:c.3010C>G, p.Gln1004Glu

Isolated anencephaly

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