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Details for ARL6:c.92C>T, p.Thr31Met

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
97487043	97768199

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.92C>T

PROTEIN CHANGE

p.Thr31Met

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
3.982e-06	0.0	0.0	0.0	5.44e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.825176	Disease causing

DBSNP ID

1 combination linked to ARL6:c.92C>T, p.Thr31Met

1 disease linked to ARL6:c.92C>T, p.Thr31Met

Bardet-Biedl syndrome

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