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Details for LAMB3:c.1015T>C, p.Tyr339His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
209803199	209629854

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1015T>C

PROTEIN CHANGE

p.Tyr339His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0056	0.0	0.0014	0.001	0.0149	0.0112

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01274	0.001599	0.006071	0.01687	0.0002175	0.01224	0.01682	0.01287	0.01754

ESP
AA	EA
0.002724	0.0164

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.856419	Polymorphism

DBSNP ID

1 combination linked to LAMB3:c.1015T>C, p.Tyr339His

1 disease linked to LAMB3:c.1015T>C, p.Tyr339His

Severe generalized junctional epidermolysis bullosa

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