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Details for NPC1:c.3560C>T, p.Ala1187Val

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
21114441	23534477

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3560C>T

PROTEIN CHANGE

p.Ala1187Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001195	0.0	0.0004627	0.0	5.437e-05	0.0	3.519e-05	0.0004889	0.0001961

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.058658	Disease causing

DBSNP ID

1 combination linked to NPC1:c.3560C>T, p.Ala1187Val

1 disease linked to NPC1:c.3560C>T, p.Ala1187Val

Transposition of the great arteries

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