This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for CTRC:p.Arg254Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
15772212	15445717

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg254Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0	0.0	0.008	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004429	0.000554	0.000318	0.0	0.0	0.02468	0.004408	0.003258	0.001274

ESP
AA	EA
0.000227	0.003837

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.189051	Polymorphism

DBSNP ID

1 combination linked to CTRC:p.Arg254Trp

1 disease linked to CTRC:p.Arg254Trp

Hereditary chronic pancreatitis

Found any issues with the data on this page? Report this entry.