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Details for CROCC:c.5024G>A, p.Arg1675His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
17294861	16968366

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.5024G>A

PROTEIN CHANGE

p.Arg1675His

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
0.0001018	0.0001345	0.0001847	0.0	9.895e-05	0.0	7.772e-05	0.0	0.0001928

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.363473	Polymorphism

DBSNP ID

1 combination linked to CROCC:c.5024G>A, p.Arg1675His

1 disease linked to CROCC:c.5024G>A, p.Arg1675His

Overgrowth or tall stature syndrome with skeletal involvement

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