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Details for BICD2:c.1179T>A, p.Asn393Lys

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
95481748	92719466

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1179T>A

PROTEIN CHANGE

p.Asn393Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007332	0.0002466	0.00162	0.002284	0.0	0.0002311	0.0007764	0.001305	0.0

ESP
AA	EA
0.0004539	0.001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.785846	Polymorphism

DBSNP ID

1 combination linked to BICD2:c.1179T>A, p.Asn393Lys

1 disease linked to BICD2:c.1179T>A, p.Asn393Lys

Amyotrophic lateral sclerosis

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