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Details for LAMB2:c.1886C>T, p.Pro629Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
49166098	49128665

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1886C>T

PROTEIN CHANGE

p.Pro629Leu

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
0.0002308	0.0	2.891e-05	0.0	0.0	0.0005082	0.0004048	0.0	0.0

ESP
AA	EA
0.0	0.0004651

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.159446	Polymorphism

DBSNP ID

1 combination linked to LAMB2:c.1886C>T, p.Pro629Leu

1 disease linked to LAMB2:c.1886C>T, p.Pro629Leu

Amyotrophic lateral sclerosis

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