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Details for NPC1:c.352_353delAG, p.Gln119ValfsTer8

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
21148897	23568933

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CTCT

ALTERNATE ALLELE

CT

TRANSCRIPT

N.A.

CDNA CHANGE

c.352_353delAG

PROTEIN CHANGE

p.Gln119ValfsTer8

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	Disease causing

DBSNP ID

1 combination linked to NPC1:c.352_353delAG, p.Gln119ValfsTer8

1 disease linked to NPC1:c.352_353delAG, p.Gln119ValfsTer8

Niemann-Pick disease type C

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