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Details for PTK7:c.1525C>T, p.Pro509Ser

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
43109815	43142077

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1525C>T

PROTEIN CHANGE

p.Pro509Ser

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
2.005e-05	0.0	0.0	0.0	0.000272	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.358003	Polymorphism

DBSNP ID

1 combination linked to PTK7:c.1525C>T, p.Pro509Ser

1 disease linked to PTK7:c.1525C>T, p.Pro509Ser

Adolescent idiopathic scoliosis

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