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Details for CHRNB1:c.42_44del, p.14_15del

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
7348487	7445168

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GGGC

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.42_44del

PROTEIN CHANGE

p.14_15del

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
6.413e-05	0.0	0.0	0.0	0.0	0.000615	2.907e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.927747	Polymorphism

DBSNP ID

1 combination linked to CHRNB1:c.42_44del, p.14_15del

1 disease linked to CHRNB1:c.42_44del, p.14_15del

Amyotrophic lateral sclerosis

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