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Details for MORC2:c.2716C>T, p.Arg906Cys

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
31324134	30928147

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2716C>T

PROTEIN CHANGE

p.Arg906Cys

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
7.953e-06	6.152e-05	0.0	0.0	0.0	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.525752	Polymorphism

DBSNP ID

1 combination linked to MORC2:c.2716C>T, p.Arg906Cys

1 disease linked to MORC2:c.2716C>T, p.Arg906Cys

Hereditary spastic paraplegia

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