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Details for LAMB3:c.1903C>T, p.Arg635Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
209799066	209625721

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1903C>T

PROTEIN CHANGE

p.Arg635Ter

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
0.0005092	0.0001231	0.0	0.0	5.44e-05	4.619e-05	0.001073	0.000163	3.266e-05

ESP
AA	EA
0.000227	0.0006977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.843441	Disease causing

DBSNP ID

1 combination linked to LAMB3:c.1903C>T, p.Arg635Ter

1 disease linked to LAMB3:c.1903C>T, p.Arg635Ter

Junctional epidermolysis bullosa

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