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Details for FGF8:c.77C>T, p.Pro26Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103534966	101775209

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.77C>T

PROTEIN CHANGE

p.Pro26Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001149	0.0001499	0.0004084	0.005227	9.344e-05	0.00143	0.001191	0.0007177	0.001061

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.633101	None

DBSNP ID

1 combination linked to FGF8:c.77C>T, p.Pro26Leu

1 disease linked to FGF8:c.77C>T, p.Pro26Leu

Kallmann syndrome

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