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Details for PRSS1:p.Arg116Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
142459770	142751919

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg116Cys

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
7.158e-05	0.0	0.0	0.0	0.0006525	0.0	5.275e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.279146	Disease causing

DBSNP ID

1 combination linked to PRSS1:p.Arg116Cys

1 disease linked to PRSS1:p.Arg116Cys

Hereditary chronic pancreatitis

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