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Details for ARL6IP6:c.373C>T, p.Leu125Phe

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
153575511	152718997

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.373C>T

PROTEIN CHANGE

p.Leu125Phe

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
4.351e-05	0.0	0.0	0.0	0.0	0.0	1.903e-05	0.0	0.0002907

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.652183	Polymorphism

DBSNP ID

1 combination linked to ARL6IP6:c.373C>T, p.Leu125Phe

1 disease linked to ARL6IP6:c.373C>T, p.Leu125Phe

Bardet-Biedl syndrome

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