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Details for SYNE1:c.16709A>G, p.Gln5570Arg

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
152637985	152316850

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.16709A>G

PROTEIN CHANGE

p.Gln5570Arg

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.060882	Polymorphism

DBSNP ID

1 combination linked to SYNE1:c.16709A>G, p.Gln5570Arg

1 disease linked to SYNE1:c.16709A>G, p.Gln5570Arg

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