Variant Results

or

or

Results for "HPS5"

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

HPS5

2-1278-003

chr11:
18308469-18308469

G

A

intronic

De novo

-

-

Yuen2016 G

HPS5

SP0139651

chr11:
18332381-18332381

A

T

exonic

De novo

synonymous SNV

NM_007216
NM_181508
NM_181507

c.T42A
c.T42A
c.T384A

p.A14A
p.A14A
p.A128A

-

-

Trost2022 G

HPS5

200675428@1082034664

chr11:
18313160-18313160

T

C

exonic

De novo

nonsynonymous SNV

NM_007216
NM_181508
NM_181507

c.A1927G
c.A1927G
c.A2269G

p.T643A
p.T643A
p.T757A

0.018

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HPS5

200675428_1082034664

chr11:
18313160-18313160

T

C

exonic

De novo

nonsynonymous SNV

NM_007216
NM_181508
NM_181507

c.A1927G
c.A1927G
c.A2269G

p.T643A
p.T643A
p.T757A

0.018

-

Fu2022 E

HPS5

mAGRE5947

chr11:
18312987-18312987

A

G

splicing

Paternal

splicing

17.49

Cirnigliaro2023 G

HPS5

Chen2017:32

chr11:
18313160-18313160

T

C

exonic

De novo

nonsynonymous SNV

NM_007216
NM_181508
NM_181507

c.A1927G
c.A1927G
c.A2269G

p.T643A
p.T643A
p.T757A

0.018

-

Chen2017 E

HPS5

iHART2545

chr11:
18320488-18320488

C

A

exonic

Paternal

stopgain

NM_007216
NM_181508
NM_181507

c.G673T
c.G673T
c.G1015T

p.E225X
p.E225X
p.E339X

39.0

-

Ruzzo2019 G

HPS5

iHART2546

chr11:
18320488-18320488

C

A

exonic

Paternal

stopgain

NM_007216
NM_181508
NM_181507

c.G673T
c.G673T
c.G1015T

p.E225X
p.E225X
p.E339X

39.0

-

Ruzzo2019 G

HPS5

3-0731-000

chr11:
18317577-18317577

G

T

exonic

nonsynonymous SNV

NM_007216
NM_181508
NM_181507

c.C1261A
c.C1261A
c.C1603A

p.P421T
p.P421T
p.P535T

25.3

-

Zhou2022 GE

HPS5

mAGRE2546

chr11:
18320488-18320488

C

A

exonic

Paternal

stopgain

NM_007216
NM_181508
NM_181507

c.G673T
c.G673T
c.G1015T

p.E225X
p.E225X
p.E339X

39.0

-

Cirnigliaro2023 G

HPS5

mAGRE2545

chr11:
18320488-18320488

C

A

exonic

Paternal

stopgain

NM_007216
NM_181508
NM_181507

c.G673T
c.G673T
c.G1015T

p.E225X
p.E225X
p.E339X

39.0

-

Cirnigliaro2023 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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