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Details for FGFR3:c.1633_1634del, p.Cys545HisfsTer17

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
1807384	1805657

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TGC

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1633_1634del

PROTEIN CHANGE

p.Cys545HisfsTer17

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	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.368702	None

DBSNP ID

1 combination linked to FGFR3:c.1633_1634del, p.Cys545HisfsTer17

1 disease linked to FGFR3:c.1633_1634del, p.Cys545HisfsTer17

46,XY disorder of sex development

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