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Details for GRIP1:c.1043-1G>A,

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
66849345	66455565

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1043-1G>A

PROTEIN CHANGE

None

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
4.01e-06	0.0	0.0	0.0	5.563e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.04973	Polymorphism

DBSNP ID

1 combination linked to GRIP1:c.1043-1G>A,

1 disease linked to GRIP1:c.1043-1G>A,

Isolated Klippel-Feil syndrome

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