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Details for SMCHD1:c.5150_5151del, p.Lys1717fs

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
2772344	2772346

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AAA

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5150_5151del

PROTEIN CHANGE

p.Lys1717fs

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	4.818793	Disease causing

DBSNP ID

1 combination linked to SMCHD1:c.5150_5151del, p.Lys1717fs

1 disease linked to SMCHD1:c.5150_5151del, p.Lys1717fs

Facioscapulohumeral dystrophy

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