Variant Results

or

Results for "OCA2"

Variant Events: 47

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

OCA2

SP0027969

chr15:
28263502-28263502

T

G

intronic

De novo

-

Fu2022 E

OCA2

5-5163-003

chr15:
28327465-28327465

C

G

intronic

De novo

-

Trost2022 G

OCA2

2-1397-003

chr15:
28185932-28185932

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

SP0044326

chr15:
28269999-28269999

G

A

exonic

De novo

synonymous SNV

NM_000275
NM_001300984

c.C565T
c.C565T

p.L189L
p.L189L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

OCA2

2-0142-003

chr15:
28329787-28329790

GAAG

TGAT

intronic

De novo

-

Trost2022 G

OCA2

SP0206999

chr15:
28263600-28263600

G

A

exonic

De novo

synonymous SNV

NM_000275
NM_001300984

c.C750T
c.C750T

p.I250I
p.I250I

-

1.679E-5

Trost2022 G

OCA2

SJD_79.3

chr15:
28321760-28321760

G

A

intronic

De novo

-

Trost2022 G

OCA2

2-1750-003

chr15:
28199420-28199420

T

C

intronic

De novo

-

Trost2022 G

OCA2

7-0459-003

chr15:
28218363-28218363

C

A

intronic

De novo

-

Trost2022 G

OCA2

AU3051303

chr15:
28127841-28127841

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

SP0047483

chr15:
28267668-28267668

A

T

exonic

De novo

nonsynonymous SNV

NM_000275
NM_001300984

c.T625A
c.T625A

p.L209I
p.L209I

8.422

-

Fu2022 E
Trost2022 G
Zhou2022 GE

OCA2

4-0035-003

chr15:
28175805-28175808

AATC

TTTTTTTTTTTTTT

intronic

De novo

-

Trost2022 G

OCA2

3-0107-001

chr15:
28177997-28177997

T

C

intronic

De novo

-

Trost2022 G

OCA2

PN400332

chr15:
28230247-28230247

C

T

exonic

Unknown

nonsynonymous SNV

NM_001300984
NM_000275

c.G1255A
c.G1327A

p.V419I
p.V443I

32.0

0.0028

Leblond2019 E

OCA2

1-0590-003

chr15:
28117206-28117206

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

mAGRE1754

chr15:
28261317-28261317

T

TGA

exonic

Maternal

frameshift insertion

NM_000275
NM_001300984

c.822_823insTC
c.822_823insTC

p.T275fs
p.T275fs

-

1.0E-4

Cirnigliaro2023 G

OCA2

PN400383

chr15:
28230247-28230247

C

T

exonic

Unknown

nonsynonymous SNV

NM_001300984
NM_000275

c.G1255A
c.G1327A

p.V419I
p.V443I

32.0

0.0028

Leblond2019 E

OCA2

MSSNG00117-003

chr15:
28259945-28259945

C

T

exonic

De novo

nonsynonymous SNV

NM_000275
NM_001300984

c.G1021A
c.G1021A

p.V341I
p.V341I

17.9

2.533E-5

Trost2022 G
Zhou2022 GE

OCA2

7-0254-003

chr15:
28022385-28022385

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

MT_170.3

chr15:
28171379-28171379

G

A

exonic

De novo

nonsynonymous SNV

NM_001300984
NM_000275

c.C1901T
c.C1973T

p.A634V
p.A658V

25.3

-

Trost2022 G
Zhou2022 GE

OCA2

AU1635302

chr15:
28000379-28000380

AG

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

OCA2

2-1357-003

chr15:
28238974-28238974

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

iHART1754

chr15:
28261317-28261317

T

TGA

exonic

Maternal

frameshift insertion

NM_000275
NM_001300984

c.822_823insTC
c.822_823insTC

p.T275fs
p.T275fs

-

1.0E-4

Ruzzo2019 G

OCA2

AU3371303

chr15:
28291680-28291680

T

C

intronic

De novo

-

Yuen2017 G

OCA2

AU3698301

chr15:
28126485-28126485

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

2-0223-004

chr15:
28022493-28022493

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

2-1140-003

chr15:
28281962-28281962

G

A

intronic

De novo

-

Yuen2017 G

OCA2

216287

chr15:
28112039-28112039

C

G

intronic

De novo

-

Trost2022 G

OCA2

7-0364-003

chr15:
28120968-28120968

G

A

intronic

De novo

-

Trost2022 G

OCA2

7-0288-004

chr15:
28049270-28049270

T

C

intronic

De novo

-

Trost2022 G

OCA2

1-1055-003

chr15:
28062214-28062214

C

T

intronic

De novo

-

Trost2022 G

OCA2

REACH000092

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

OCA2

X3N7Y_01

chr15:
28046941-28046941

G

A

intronic

De novo

-

Trost2022 G

OCA2

1-0260-004

chr15:
28036739-28036739

G

A

intronic

De novo

-

Trost2022 G

OCA2

2-1169-004

chr15:
28043048-28043049

GC

AGT

intronic

De novo

-

Trost2022 G

OCA2

1-0826-003

chr15:
28113319-28113319

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

1-0112-003

chr15:
28175787-28175790

AAAA

TATTCCAT

intronic

De novo

-

Trost2022 G

OCA2

4-0035-003

chr15:
28175787-28175790

AAAA

TATTCCAT

intronic

De novo

-

Trost2022 G

OCA2

A30

chr15:
28008558-28008558

C

A

intronic

De novo

-

Wu2018 G

OCA2

2-0129-004

chr15:
28013493-28013493

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

OCA2

1-0563-004

chr15:
28175785-28175790

GGAAAA

TCCAT

intronic

De novo

-

Trost2022 G

OCA2

11881_p1

chr15:
28202804-28202804

G

T

exonic

De novo

nonsynonymous SNV

NM_001300984
NM_000275

c.C1642A
c.C1714A

p.R548S
p.R572S

15.92

-

Fu2022 E

OCA2

1-0469-003

chr15:
28175787-28175790

AAAA

TATTCCAT

intronic

De novo

-

Trost2022 G

OCA2

5-0024-003

chr15:
28161788-28161788

T

A

intronic

De novo

-

Trost2022 G

OCA2

1-0169-004

chr15:
28175785-28175790

GGAAAA

TCCAT

intronic

De novo

-

Trost2022 G

OCA2

10-0005-003

chr15:
28155296-28155297

GC

AA

intronic

De novo

-

Trost2022 G

OCA2

MSSNG00105-004

chr15:
28155870-28155870

G

C

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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