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Details for SPINK1:p.Asn34Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
147207678	147828115

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asn34Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0064	0.0	0.0029	0.0079	0.008	0.0143

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009063	0.00241	0.001739	0.0008993	0.002792	0.01721	0.009636	0.007723	0.01975

ESP
AA	EA
0.00227	0.01093

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.527648	Polymorphism

DBSNP ID

4 combinations linked to SPINK1:p.Asn34Ser

OLI674; OLI675; OLI676; OLI677

1 disease linked to SPINK1:p.Asn34Ser

Hereditary chronic pancreatitis

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