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Details for CHD7:c.30del, p.Phe10LeufsTer25

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61654016	60741457

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.30del

PROTEIN CHANGE

p.Phe10LeufsTer25

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	3.929667	Disease causing

DBSNP ID

1 combination linked to CHD7:c.30del, p.Phe10LeufsTer25

1 disease linked to CHD7:c.30del, p.Phe10LeufsTer25

Kallmann syndrome

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