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Details for LAMA3:c.9400G>C, p.Asp3134His

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
21529777	23949813

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.9400G>C

PROTEIN CHANGE

p.Asp3134His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00068	0.0003076	0.0005204	0.000496	0.0	0.0	0.001037	0.0006517	0.0006859

ESP
AA	EA
0.0	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.842051	Polymorphism

DBSNP ID

1 combination linked to LAMA3:c.9400G>C, p.Asp3134His

1 disease linked to LAMA3:c.9400G>C, p.Asp3134His

Severe generalized junctional epidermolysis bullosa

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