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Details for MROH2A:p.Met208Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
234701492	233792846

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Met208Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0587	0.2148	0.0144	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01152	0.1923	0.01094	0.004175	0.0	0.0	0.001109	0.009504	0.0004437

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.296506	Polymorphism

DBSNP ID

1 combination linked to MROH2A:p.Met208Val

1 disease linked to MROH2A:p.Met208Val

Juvenile amyotrophic lateral sclerosis

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