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Details for FOXP1:c.1501G>A, p.Ala501Thr

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71015129	70965978

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1501G>A

PROTEIN CHANGE

p.Ala501Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.749e-05	0.000123	0.0	0.0	0.0001631	0.0	9.671e-05	0.0001629	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.346699	Polymorphism

DBSNP ID

1 combination linked to FOXP1:c.1501G>A, p.Ala501Thr

1 disease linked to FOXP1:c.1501G>A, p.Ala501Thr

46,XY disorder of sex development

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