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Details for BAZ1B:c.1364G>A, p.Arg455Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
72892427	73478097

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1364G>A

PROTEIN CHANGE

p.Arg455Gln

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
7.953e-06	0.0	0.0	0.0	5.438e-05	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.208706	Polymorphism

DBSNP ID

1 combination linked to BAZ1B:c.1364G>A, p.Arg455Gln

1 disease linked to BAZ1B:c.1364G>A, p.Arg455Gln

Isolated Klippel-Feil syndrome

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