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Details for COBL:c.3124C>T, p.Arg1042Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
51095669	51027972

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3124C>T

PROTEIN CHANGE

p.Arg1042Cys

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
3.281e-05	0.0	0.0	0.0	0.0	4.756e-05	3.629e-05	0.0	0.0001046

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.471636	Polymorphism

DBSNP ID

1 combination linked to COBL:c.3124C>T, p.Arg1042Cys

1 disease linked to COBL:c.3124C>T, p.Arg1042Cys

Isolated anencephaly

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