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Details for OBSCN:c.8633T>C, p.Val2878Ala

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228467095	228279394

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.8633T>C

PROTEIN CHANGE

p.Val2878Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0014	0.0	0.006	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00509	0.0009121	0.00212	0.00161	0.0	0.00771	0.007846	0.004009	0.003176

ESP
AA	EA
0.0007198	0.008926

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.531185	Polymorphism

DBSNP ID

1 combination linked to OBSCN:c.8633T>C, p.Val2878Ala

1 disease linked to OBSCN:c.8633T>C, p.Val2878Ala

Left ventricular noncompaction

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