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Details for ENAM:c.588+1delG, p.Asn197IlefsTer81

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
71503554	70637837

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

AG

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.588+1delG

PROTEIN CHANGE

p.Asn197IlefsTer81

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	3.433052	Disease causing

DBSNP ID

1 combination linked to ENAM:c.588+1delG, p.Asn197IlefsTer81

1 disease linked to ENAM:c.588+1delG, p.Asn197IlefsTer81

Amelogenesis imperfecta

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