Variant Results

or

Results for "HPS6"

Variant Events: 11

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

HPS6

2-1235-003

chr10:
103826684-103826684

C

T

exonic

De novo

synonymous SNV

NM_024747

c.C1453T

p.L485L

-

Trost2022 G
Yuen2015 G

HPS6

2-1738-003

chr10:
103825375-103825375

C

A

exonic

De novo

synonymous SNV

NM_024747

c.C144A

p.P48P

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

HPS6

SP0074175

chr10:
103827417-103827417

C

G

exonic

De novo

nonsynonymous SNV

NM_024747

c.C2186G

p.P729R

12.07

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HPS6

SP0083107

chr10:
103826449-103826474

GGCCTGCGGGTACTACCAGCGGCGGA

G

exonic

De novo

frameshift deletion

NM_024747

c.1219_1243del

p.A407fs

-

8.414E-6

Fu2022 E
Zhou2022 GE

HPS6

SP0128942

chr10:
103827153-103827153

G

C

exonic

De novo

nonsynonymous SNV

NM_024747

c.G1922C

p.G641A

4.327

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HPS6

NDAR_INVFU720GFQ_wes1

chr10:
103826022-103826022

C

T

exonic

De novo

nonsynonymous SNV

NM_024747

c.C791T

p.P264L

11.16

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HPS6

Cukier2014:7435

chr10:
103825865-103825865

G

A

exonic

Unknown

nonsynonymous SNV

NM_024747

c.G634A

p.V212M

12.63

2.0E-4

Cukier2014 E

HPS6

mAGRE3032

chr10:
103826537-103826537

C

T

exonic

Paternal

stopgain

NM_024747

c.C1306T

p.Q436X

28.0

-

Cirnigliaro2023 G

HPS6

1-0640-003

chr10:
103855899-103855899

C

T

intergenic

De novo

-

Yuen2017 G

HPS6

SP0079441

chr10:
103826939-103826939

C

T

exonic

stopgain

NM_024747

c.C1708T

p.Q570X

15.1

-

Zhou2022 GE

HPS6

iHART3032

chr10:
103826537-103826537

C

T

exonic

Paternal

stopgain

NM_024747

c.C1306T

p.Q436X

28.0

-

Ruzzo2019 G

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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