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Details for CNTNAP2:c.338A>G, p.Tyr113Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
146536932	146839840

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.338A>G

PROTEIN CHANGE

p.Tyr113Cys

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
5.568e-05	0.0	0.0	0.0	0.0007612	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.017111	Disease causing

DBSNP ID

1 combination linked to CNTNAP2:c.338A>G, p.Tyr113Cys

1 disease linked to CNTNAP2:c.338A>G, p.Tyr113Cys

Adolescent idiopathic scoliosis

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