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Details for FLRT3:c.205C>A, p.Gln69Lys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
14307948	14327302

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.205C>A

PROTEIN CHANGE

p.Gln69Lys

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
2.791e-05	0.0	0.0	0.0	0.0	0.0	6.182e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.177358	Polymorphism

DBSNP ID

1 combination linked to FLRT3:c.205C>A, p.Gln69Lys

1 disease linked to FLRT3:c.205C>A, p.Gln69Lys

Kallmann syndrome

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