Variant Results

or

Results for "VCAN"

Variant Events: 22

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

VCAN

1-0453-003

chr5:
82905711-82905711

C

T

intergenic

De novo

-

Yuen2017 G

VCAN

SSC05058

chr5:
82817065-82817065

G

A

exonic

De novo

synonymous SNV

NM_001164098
NM_004385

c.G2940A
c.G2940A

p.K980K
p.K980K

-

Fu2022 E
Lim2017 E
Trost2022 G

VCAN

MSSNG00357-003

chr5:
82854025-82854025

G

A

intronic

De novo

-

Trost2022 G

VCAN

AU047703

chr5:
82874318-82874318

T

A

intronic

De novo

-

Trost2022 G

VCAN

More2023:14

chr5:
82786147-82786147

G

T

exonic

Inherited

nonsynonymous SNV

NM_001126336
NM_001164097
NM_001164098
NM_004385

c.G301T
c.G301T
c.G301T
c.G301T

p.V101L
p.V101L
p.V101L
p.V101L

18.69

1.648E-5

More2023 G

VCAN

AU1521301

chr5:
82881602-82881602

T

A

intergenic

De novo

-

Yuen2017 G

VCAN

AU4356302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

VCAN

12661.p1

chr5:
82817065-82817065

G

A

exonic

De novo

synonymous SNV

NM_001164098
NM_004385

c.G2940A
c.G2940A

p.K980K
p.K980K

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

VCAN

Chen2017:96

chr5:
82833531-82833531

T

G

exonic

De novo

nonsynonymous SNV

NM_001164097
NM_004385

c.T1748G
c.T4709G

p.F583C
p.F1570C

8.985

-

Chen2017 E

VCAN

10001451004926525-C

chr5:
82841390-82841390

C

T

exonic

De novo

synonymous SNV

NM_001126336
NM_001164097
NM_001164098
NM_004385

c.C1077T
c.C6339T
c.C4038T
c.C9300T

p.N359N
p.N2113N
p.N1346N
p.N3100N

-

2.471E-5

Fu2022 E

VCAN

200675785_1082034430

chr5:
82833531-82833531

T

G

exonic

De novo

nonsynonymous SNV

NM_001164097
NM_004385

c.T1748G
c.T4709G

p.F583C
p.F1570C

8.985

-

Fu2022 E

VCAN

AU0039303

chr5:
82846387-82846387

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VCAN

1-0556-003

chr5:
82804851-82804872

AAAAGAAAGAAAGAAAGAAAGA

AAAAGAAAGAAAGAAAGA

intronic

De novo

-

Yuen2017 G

VCAN

SP0231358

chr5:
82837089-82837089

A

T

exonic

De novo

nonsynonymous SNV

NM_001164097
NM_004385

c.A5306T
c.A8267T

p.H1769L
p.H2756L

5.991

-

Trost2022 G

VCAN

AU2463301

chr5:
82849258-82849258

G

A

exonic

De novo

stopgain

NM_001126336
NM_001164097
NM_001164098
NM_004385

c.G1346A
c.G6608A
c.G4307A
c.G9569A

p.W449X
p.W2203X
p.W1436X
p.W3190X

47.0

-

Trost2022 G

VCAN

7-0461-004

chr5:
82814843-82814843

A

C

intronic

De novo

-

Trost2022 G

VCAN

SP0184840

chr5:
82836159-82836159

C

A

exonic

De novo

nonsynonymous SNV

NM_001164097
NM_004385

c.C4376A
c.C7337A

p.A1459E
p.A2446E

10.06

-

Trost2022 G

VCAN

3-0476-000

chr5:
82790509-82790509

C

T

intronic

De novo

-

Trost2022 G

VCAN

3-0781-000

chr5:
82807356-82807356

C

T

intronic

De novo

-

Trost2022 G

VCAN

AU4159301

chr5:
82830130-82830130

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VCAN

SJD_65.3

chr5:
82849322-82849322

A

G

exonic

De novo

synonymous SNV

NM_001126336
NM_001164097
NM_001164098
NM_004385

c.A1410G
c.A6672G
c.A4371G
c.A9633G

p.E470E
p.E2224E
p.E1457E
p.E3211E

-

Trost2022 G
Zhou2022 GE

VCAN

1-0649-003

chr5:
82782042-82782042

T

A

intronic

De novo

-

Trost2022 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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