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Details for FKBP10:c.1256C>T, p.Ser419Leu

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
39976713	41820461

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1256C>T

PROTEIN CHANGE

p.Ser419Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001112	0.0002512	0.0008096	0.0	0.0	0.001353	0.001809	0.0009843	0.0002286

ESP
AA	EA
0.0004539	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.723366	Disease causing

DBSNP ID

1 combination linked to FKBP10:c.1256C>T, p.Ser419Leu

1 disease linked to FKBP10:c.1256C>T, p.Ser419Leu

Odontochondrodysplasia

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