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Details for FLNA:c.6967G>A, p.Asp2323Asn

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153579981	154351613

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6967G>A

PROTEIN CHANGE

p.Asp2323Asn

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
3.33e-05	8.228e-05	3.661e-05	0.0	0.0	0.0	1.244e-05	0.0	0.0001575

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.027612	Polymorphism

DBSNP ID

1 combination linked to FLNA:c.6967G>A, p.Asp2323Asn

1 disease linked to FLNA:c.6967G>A, p.Asp2323Asn

46,XY disorder of sex development

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