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Details for COL9A3:c.116C>G, p.Pro39Arg

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
61448956	62817604

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.116C>G

PROTEIN CHANGE

p.Pro39Arg

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
1.399e-05	0.0	4.168e-05	0.0001223	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.246779	Polymorphism

DBSNP ID

1 combination linked to COL9A3:c.116C>G, p.Pro39Arg

1 disease linked to COL9A3:c.116C>G, p.Pro39Arg

Disorder of sex development

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