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Details for CFTR:c.1775G>A, p.Cys592Tyr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
117231996	117591942

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1775G>A

PROTEIN CHANGE

p.Cys592Tyr

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
8.614e-06	0.0	6.66e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.073188	Disease causing

DBSNP ID

1 combination linked to CFTR:c.1775G>A, p.Cys592Tyr

1 disease linked to CFTR:c.1775G>A, p.Cys592Tyr

Cystic fibrosis

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