Variant Results

or

Results for "ALMS1"

Variant Events: 43

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

ALMS1

3-0434-000

chr2:
73814513-73814513

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ALMS1

5-0064-003

chr2:
73682451-73682451

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALMS1

3-0072-000

chr2:
73814098-73814098

G

A

intronic

De novo

-

Trost2022 G

ALMS1

7-0390-003

chr2:
73818370-73818375

GCTTTA

G

intronic

De novo

-

Trost2022 G

ALMS1

1-0239-003

chr2:
73795688-73795688

A

G

intronic

De novo

-

Trost2022 G

ALMS1

3-0432-000

chr2:
73734629-73734629

G

A

intronic

De novo

-

Yuen2017 G

ALMS1

REACH000173

chr2:
73807736-73807736

C

T

intronic

De novo

-

Trost2022 G

ALMS1

SJD_3.3

chr2:
73767697-73767697

C

A

intronic

De novo

-

Trost2022 G

ALMS1

13552.p1

chr2:
73681132-73681132

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_015120

c.T7475G

p.L2492R

17.75

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ALMS1

5-5153-003

chr2:
73788493-73788493

C

T

intronic

De novo

-

Trost2022 G

ALMS1

AU3951301

chr2:
73692385-73692385

C

T

intronic

De novo

-

Yuen2017 G

ALMS1

SP0063582

chr2:
73677846-73677846

G

C

exonic

De novo

nonsynonymous SNV

NM_015120

c.G4189C

p.G1397R

5.749

-

Fu2022 E
Zhou2022 GE

ALMS1

mAGRE2284

chr2:
73799775-73799776

AC

A

exonic

Maternal

frameshift deletion

NM_015120

c.10769delC

p.T3590fs

-

7.494E-5

Cirnigliaro2023 G

ALMS1

mAGRE5324

chr2:
73613052-73613054

AGG

A

exonic

Maternal

frameshift deletion

NM_015120

c.57_58del

p.E19fs

-

8.004E-5

Cirnigliaro2023 G

ALMS1

SP0036976

chr2:
73826502-73826503

TA

T

intronic

De novo

-

Fu2022 E

ALMS1

SP0095958

chr2:
73675126-73675126

A

C

exonic

De novo

nonsynonymous SNV

NM_015120

c.A1469C

p.Q490P

11.51

-

Fu2022 E
Zhou2022 GE

ALMS1

2-0256-004

chr2:
73632211-73632211

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALMS1

2-1288-003

chr2:
73667582-73667599

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

ALMS1

GM173676

chr2:
73659359-73659359

C

T

exonic

De novo

nonsynonymous SNV

NM_015120

c.C1372T

p.L458F

12.25

-

Fu2022 E

ALMS1

AC04-0014-01

chr2:
73800198-73800198

A

C

exonic

De novo

nonsynonymous SNV

NM_015120

c.A11191C

p.N3731H

15.95

-

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

ALMS1

SSC08937

chr2:
73678763-73678763

G

C

exonic

De novo

nonsynonymous SNV

NM_015120

c.G5106C

p.E1702D

5.559

-

Fu2022 E

ALMS1

1-0720-003

chr2:
73768357-73768357

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALMS1

12529.p1

chr2:
73698980-73698980

T

C

intronic

De novo

-

Turner2016 G

ALMS1

iHART2284

chr2:
73799775-73799776

AC

A

exonic

Maternal

frameshift deletion

NM_015120

c.10769delC

p.T3590fs

-

7.494E-5

Ruzzo2019 G

ALMS1

AU2437302

chr2:
73636627-73636627

T

G

intronic

De novo

-

Yuen2017 G

ALMS1

SSC08031

chr2:
73681132-73681132

T

G

exonic

De novo

nonsynonymous SNV

NM_015120

c.T7475G

p.L2492R

17.75

-

Fu2022 E
Lim2017 E
Trost2022 G

ALMS1

3-0826-000

chr2:
73642985-73642985

A

G

intronic

De novo

-

Trost2022 G

ALMS1

REACH000214

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

ALMS1

10-0008-003

chr2:
73626844-73626850

CCTTGTT

C

intronic

De novo

-

Trost2022 G

ALMS1

7-0385-003

chr2:
73638354-73638354

G

A

intronic

De novo

-

Trost2022 G

ALMS1

1-0032-003

chr2:
73745693-73745693

A

G

intronic

De novo

-

Yuen2017 G

ALMS1

AU2288301

chr2:
73617263-73617263

A

G

intronic

De novo

-

Trost2022 G

ALMS1

MT_44.3

chr2:
73757256-73757256

T

C

intronic

De novo

-

Trost2022 G

ALMS1

SJD_3.3

chr2:
73767694-73767694

A

G

intronic

De novo

-

Trost2022 G

ALMS1

1-0859-003

chr2:
73692091-73692091

G

A

intronic

De novo

-

Trost2022 G

ALMS1

MSSNG00421-004

chr2:
73705302-73705302

C

T

intronic

De novo

-

Trost2022 G

ALMS1

13651.p1

chr2:
73678763-73678763

G

C

exonic

nonsynonymous SNV

NM_015120

c.G5106C

p.E1702D

5.559

-

Zhou2022 GE

ALMS1

SP0091235

chr2:
73680296-73680296

C

T

exonic

De novo

synonymous SNV

NM_015120

c.C6639T

p.S2213S

-

Trost2022 G

ALMS1

AU2410302

chr2:
73765410-73765410

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALMS1

MSSNG00338-003

chr2:
73682086-73682086

T

C

intronic

De novo

-

Trost2022 G

ALMS1

AU079104

chr2:
73790401-73790401

T

C

intronic

De novo

-

Yuen2017 G

ALMS1

3-0534-000

chr2:
73660288-73660288

T

C

intronic

De novo

-

Trost2022 G

ALMS1

1-0160-004

chr2:
73668713-73668713

C

TTTGT

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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