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Details for COL6A2:c.343C>T, p.Arg115Trp

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
47532120	46112206

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.343C>T

PROTEIN CHANGE

p.Arg115Trp

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
1.2e-05	0.0	0.0	0.0	0.0	0.0	2.664e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.4827	Polymorphism

DBSNP ID

1 combination linked to COL6A2:c.343C>T, p.Arg115Trp

1 disease linked to COL6A2:c.343C>T, p.Arg115Trp

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