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Details for FLNA:c.2449C>T, p.Pro817Ser

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153590902	154362534

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2449C>T

PROTEIN CHANGE

p.Pro817Ser

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
0.0004537	8.091e-05	3.653e-05	0.0	0.0	0.0002512	0.0007446	0.0002246	0.0007867

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.680003	Polymorphism

DBSNP ID

1 combination linked to FLNA:c.2449C>T, p.Pro817Ser

1 disease linked to FLNA:c.2449C>T, p.Pro817Ser

46,XY disorder of sex development

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