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Details for FLRT3:c.1134A>C, p.Gln378His

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
14307019	14326373

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1134A>C

PROTEIN CHANGE

p.Gln378His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0078	0.0015	0.0115	0.0	0.0288	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01802	0.003508	0.007264	0.002683	5.443e-05	0.02744	0.03073	0.01637	0.000294

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.701056	Polymorphism

DBSNP ID

1 combination linked to FLRT3:c.1134A>C, p.Gln378His

1 disease linked to FLRT3:c.1134A>C, p.Gln378His

Normosmic congenital hypogonadotropic hypogonadism

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