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Details for TRIM71:c.965G>A, p.Arg322Gln

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
32915422	32873930

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.965G>A

PROTEIN CHANGE

p.Arg322Gln

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
4.816e-05	0.0001291	2.9e-05	0.0	0.0	0.0	5.302e-05	0.0	9.813e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.331273	Polymorphism

DBSNP ID

1 combination linked to TRIM71:c.965G>A, p.Arg322Gln

1 disease linked to TRIM71:c.965G>A, p.Arg322Gln

Mayer-Rokitansky-Küster-Hauser syndrome

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