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Details for EDNRB:p.Ser305Asn

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
78475230	77901095

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser305Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.005	0.0008	0.0159	0.0	0.0129	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01004	0.001791	0.01211	0.01481	0.0	0.01995	0.0125	0.01231	0.0

ESP
AA	EA
0.002043	0.01384

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.995306	Polymorphism

DBSNP ID

1 combination linked to EDNRB:p.Ser305Asn

1 disease linked to EDNRB:p.Ser305Asn

Hirschsprung disease

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