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Details for CTRC:p.Val235Ile

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
15772155	15445660

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val235Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0014	0.0	0.0	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001141	0.0003692	0.0001446	0.0007937	0.0001087	4.621e-05	0.0003253	0.0003258	0.007382

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.311766	Disease causing

DBSNP ID

1 combination linked to CTRC:p.Val235Ile

1 disease linked to CTRC:p.Val235Ile

Hereditary chronic pancreatitis

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