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Details for ADNP:c.775A>C, p.Asn259His

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
49510476	50893939

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.775A>C

PROTEIN CHANGE

p.Asn259His

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.156903	Disease causing

DBSNP ID

2 combinations linked to ADNP:c.775A>C, p.Asn259His

1 disease linked to ADNP:c.775A>C, p.Asn259His

Arthrogryposis syndrome

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