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Details for CHRNB1:c.44_45insAA, p.Ala15fs

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
7348490	7445171

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CAA

TRANSCRIPT

CDNA CHANGE

c.44_45insAA

PROTEIN CHANGE

p.Ala15fs

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
6.434e-05	0.0	0.0	0.0	0.0	0.0006193	2.919e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.278526	Disease causing

DBSNP ID

1 combination linked to CHRNB1:c.44_45insAA, p.Ala15fs

1 disease linked to CHRNB1:c.44_45insAA, p.Ala15fs

Amyotrophic lateral sclerosis

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