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Details for FLRT3:c.152C>T, p.Ser51Phe

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
14308001	14327355

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.152C>T

PROTEIN CHANGE

p.Ser51Phe

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.831101	Disease causing

DBSNP ID

1 combination linked to FLRT3:c.152C>T, p.Ser51Phe

1 disease linked to FLRT3:c.152C>T, p.Ser51Phe

46,XY disorder of sex development

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