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Details for FLNA:c.7450C>T, p.Arg2484Cys

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153578119	154349751

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.7450C>T

PROTEIN CHANGE

p.Arg2484Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0003	0.0	0.0	0.0	0.0013	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001659	0.0	0.0002924	0.0	0.0	0.0	0.0002226	0.0006757	5.253e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.816081	Polymorphism

DBSNP ID

1 combination linked to FLNA:c.7450C>T, p.Arg2484Cys

1 disease linked to FLNA:c.7450C>T, p.Arg2484Cys

Syndrome with 46,XY disorder of sex development

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