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Details for FGFR3:c.1885G>A, p.Glu629Lys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
1807820	1806093

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1885G>A

PROTEIN CHANGE

p.Glu629Lys

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
0.0001799	0.0	0.0003188	0.0	0.0	0.0	0.0002924	0.0001638	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.092511	Polymorphism

DBSNP ID

2 combinations linked to FGFR3:c.1885G>A, p.Glu629Lys

OLI1528; OLI1538

1 disease linked to FGFR3:c.1885G>A, p.Glu629Lys

46,XY disorder of sex development

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