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Details for GJA1:c.1127G>A, p.Arg376Gln

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
121769120	121447974

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1127G>A

PROTEIN CHANGE

p.Arg376Gln

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
None	0.0	0.0	4.0	0.0	0.0	5.0	5.0	5.0

ESP
AA	EA
0.0	6.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.662806	Disease causing

DBSNP ID

1 combination linked to GJA1:c.1127G>A, p.Arg376Gln

1 disease linked to GJA1:c.1127G>A, p.Arg376Gln

Transposition of the great arteries

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