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Details for COL11A2:c.277C>T, p.Arg93Cys

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
33156921	33189144

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.277C>T

PROTEIN CHANGE

p.Arg93Cys

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
2.789e-05	0.0002473	0.0	0.0	0.0	0.0	1.764e-05	0.0001632	0.0

ESP
AA	EA
0.0004539	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.709565	Polymorphism

DBSNP ID

1 combination linked to COL11A2:c.277C>T, p.Arg93Cys

1 disease linked to COL11A2:c.277C>T, p.Arg93Cys

Adolescent idiopathic scoliosis

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