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Details for CHAD:c.1049C>T, p.Thr350Ile

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
48542690	50465329

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1049C>T

PROTEIN CHANGE

p.Thr350Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.02	0.0734	0.0043	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005859	0.08035	0.003181	0.0	0.0001631	0.0	0.0002638	0.002932	0.000196

ESP
AA	EA
0.07671	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.130893	Polymorphism

DBSNP ID

1 combination linked to CHAD:c.1049C>T, p.Thr350Ile

1 disease linked to CHAD:c.1049C>T, p.Thr350Ile

Colorectal cancer

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