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Details for LAMA3:c.1650_1659del, p.Ile550MetfsTer46

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
21484530	23904566

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CAAGAGAAACG

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1650_1659del

PROTEIN CHANGE

p.Ile550MetfsTer46

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	None	None

DBSNP ID

1 combination linked to LAMA3:c.1650_1659del, p.Ile550MetfsTer46

1 disease linked to LAMA3:c.1650_1659del, p.Ile550MetfsTer46

Amelogenesis imperfecta

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