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Details for FBN1:c.4969dup, p.Ile1657AsnfsTer30

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
48756191	48463994

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AT

TRANSCRIPT

CDNA CHANGE

c.4969dup

PROTEIN CHANGE

p.Ile1657AsnfsTer30

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	5.546574	Disease causing

DBSNP ID

1 combination linked to FBN1:c.4969dup, p.Ile1657AsnfsTer30

2 diseases linked to FBN1:c.4969dup, p.Ile1657AsnfsTer30

Congenital diaphragmatic hernia; Marfan syndrome

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