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Details for COG1:c.739C>T, p.His247Tyr

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
71193217	73197078

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.739C>T

PROTEIN CHANGE

p.His247Tyr

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
5.977e-05	0.0	0.0	0.0	0.0007613	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.554334	Polymorphism

DBSNP ID

1 combination linked to COG1:c.739C>T, p.His247Tyr

1 disease linked to COG1:c.739C>T, p.His247Tyr

Isolated Klippel-Feil syndrome

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