Variant Results

or

Results for "NPC1"

Variant Events: 26

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

NPC1

AU3905302

chr18:
21148825-21148825

T

TTC

exonic

Paternal

frameshift insertion

NM_000271

c.424_425insGA

p.K142fs

-

8.242E-6

Cirnigliaro2023 G

NPC1

AU3905301

chr18:
21148825-21148825

T

TTC

exonic

Paternal

frameshift insertion

NM_000271

c.424_425insGA

p.K142fs

-

8.242E-6

Cirnigliaro2023 G

NPC1

mAGRE4234

chr18:
21118573-21118575

CCT

C

exonic

Paternal

frameshift deletion

NM_000271

c.2972_2973del

p.Q991fs

-

2.472E-5

Cirnigliaro2023 G

NPC1

mAGRE3078

chr18:
21113327-21113331

CTGAG

C

exonic

Paternal

frameshift deletion

NM_000271

c.3742_3745del

p.L1248fs

-

4.126E-5

Cirnigliaro2023 G

NPC1

2-0002-005

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NPC1

mAGRE3077

chr18:
21113327-21113331

CTGAG

C

exonic

Paternal

frameshift deletion

NM_000271

c.3742_3745del

p.L1248fs

-

4.126E-5

Cirnigliaro2023 G

NPC1

AU063004

chr18:
21167849-21167849

T

C

intergenic

De novo

-

Yuen2017 G

NPC1

SP0155404

chr18:
21148874-21148874

T

G

exonic

De novo

nonsynonymous SNV

NM_000271

c.A376C

p.T126P

16.33

-

Trost2022 G

NPC1

3-0090-001

chr18:
21154874-21154874

C

T

intronic

De novo

-

Trost2022 G

NPC1

4-0062-003

chr18:
21133755-21133756

CC

AT

intronic

De novo

-

Trost2022 G

NPC1

SP0169344

chr18:
21136667-21136667

A

C

intronic

De novo

-

Trost2022 G

NPC1

11.s1

chr18:
21119400-21119400

C

T

exonic

De novo

nonsynonymous SNV

NM_000271

c.G2830A

p.D944N

33.0

1.762E-5

An2014 E

NPC1

1-1035-003

chr18:
21116340-21116340

G

A

intronic

De novo

-

Trost2022 G

NPC1

13629.p1

chr18:
21166678-21166678

G

A

upstream

De novo

-

Wilfert2021 G

NPC1

iHART3078

chr18:
21113327-21113331

CTGAG

C

exonic

Paternal

frameshift deletion

NM_000271

c.3742_3745del

p.L1248fs

-

4.126E-5

Ruzzo2019 G

NPC1

CA_212_A

chr18:
21112229-21112229

G

A

exonic

De novo

synonymous SNV

NM_000271

c.C3774T

p.A1258A

-

Fu2022 E

NPC1

AC531.201

chr18:
21119978-21119978

T

C

intronic

De novo

-

Kosmicki2017 E

NPC1

iHART3077

chr18:
21113327-21113331

CTGAG

C

exonic

Paternal

frameshift deletion

NM_000271

c.3742_3745del

p.L1248fs

-

4.126E-5

Ruzzo2019 G

NPC1

14339.p1

chr18:
21119978-21119978

T

C

intronic

De novo

-

Krumm2015 E

NPC1

CC1262_201

chr18:
21140311-21140311

A

T

exonic

De novo

synonymous SNV

NM_000271

c.T765A

p.P255P

-

Fu2022 E

NPC1

SP0026334

chr18:
21153362-21153362

G

A

intronic

De novo

-

Fu2022 E

NPC1

SSC07443

chr18:
21152068-21152068

T

G

exonic

De novo

nonsynonymous SNV

NM_000271

c.A257C

p.N86T

13.65

8.32E-6

Fu2022 E

NPC1

1-0507-003

chr18:
21134914-21134914

G

A

exonic

De novo

nonsynonymous SNV

NM_000271

c.C1361T

p.T454I

10.52

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

NPC1

Wang2023:275

chr18:
21140315-21140315

G

A

exonic

De novo

nonsynonymous SNV

NM_000271

c.C761T

p.P254L

14.99

-

Wang2023 E

NPC1

AU3702307

chr18:
21169326-21169326

C

T

intergenic

De novo

-

Yuen2017 G

NPC1

11626-1

chr18:
21114454-21114454

G

A

exonic

De novo

nonsynonymous SNV

NM_000271

c.C3547T

p.R1183C

19.57

1.664E-5

Fu2022 E

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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