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Details for OBSCN:c.14803C>A, p.Pro4935Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228494607	228306906

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.14803C>A

PROTEIN CHANGE

p.Pro4935Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003183	0.0	0.0	0.0	0.0	0.0	7.21e-05	0.0004284	0.001999

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.978294	Polymorphism

DBSNP ID

1 combination linked to OBSCN:c.14803C>A, p.Pro4935Thr

1 disease linked to OBSCN:c.14803C>A, p.Pro4935Thr

Left ventricular noncompaction

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