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Details for PTK7:c.1703C>G, p.Thr568Arg

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
43109723	43141985

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1703C>G

PROTEIN CHANGE

p.Thr568Arg

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
2e-05	0.0003092	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.796893	Disease causing

DBSNP ID

1 combination linked to PTK7:c.1703C>G, p.Thr568Arg

1 disease linked to PTK7:c.1703C>G, p.Thr568Arg

Adolescent idiopathic scoliosis

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