Variant Results

or

Results for "IFT81"

Variant Events: 30

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

IFT81

1-0181-004

chr12:
110655240-110655240

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IFT81

AU2072302

chr12:
110611782-110611782

G

A

intronic

De novo

-

Yuen2017 G

IFT81

1-0191-003

chr12:
110701481-110701481

G

GAGTGA

intergenic

De novo

-

Yuen2017 G

IFT81

12493.p1

chr12:
110680976-110680976

G

C

intergenic

De novo

-

Turner2016 G

IFT81

SJD_10

chr12:
110566766-110566766

G

A

exonic

Paternal

nonsynonymous SNV

NM_001143779
NM_014055
NM_031473

c.G260A
c.G260A
c.G260A

p.R87H
p.R87H
p.R87H

25.1

8.242E-6

Toma2013 E

IFT81

SP0045624

chr12:
110581228-110581229

TA

T

exonic

De novo

frameshift deletion

NM_001143779
NM_014055
NM_031473

c.824delA
c.824delA
c.824delA

p.Y275fs
p.Y275fs
p.Y275fs

-

Fu2022 E

IFT81

1-0354-006

chr12:
110616085-110616085

A

C

intronic

De novo

-

Yuen2017 G

IFT81

AU2794301

chr12:
110598141-110598141

A

G

intronic

De novo

-

Trost2022 G

IFT81

AU057405

chr12:
110590883-110590883

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IFT81

MSSNG00031-003

chr12:
110608905-110608905

T

C

intronic

De novo

-

Trost2022 G

IFT81

12380.p1

chr12:
110565272-110565272

G

C

exonic

De novo

nonsynonymous SNV

NM_001143779
NM_014055
NM_031473

c.G87C
c.G87C
c.G87C

p.L29F
p.L29F
p.L29F

17.7

5.322E-5

Ji2016 E
Krumm2015 E

IFT81

1-0175-003

chr12:
110594463-110594463

A

G

intronic

De novo

-

Trost2022 G

IFT81

A4

chr12:
110584326-110584326

T

C

intronic

De novo

-

Wu2018 G

IFT81

2-1277-004

chr12:
110616085-110616085

A

C

intronic

De novo

-

Yuen2017 G

IFT81

1-0373-003

chr12:
110594463-110594463

A

G

intronic

De novo

-

Trost2022 G

IFT81

1-0175-003

chr12:
110594446-110594451

TGTGCA

CGCCCG

intronic

De novo

-

Trost2022 G

IFT81

iHART3265

chr12:
110618323-110618323

C

T

exonic

Paternal

stopgain

NM_001143779
NM_014055

c.C1285T
c.C1285T

p.Q429X
p.Q429X

36.0

-

Ruzzo2019 G

IFT81

1-0373-003

chr12:
110594457-110594457

A

G

intronic

De novo

-

Trost2022 G

IFT81

1-0562-004

chr12:
110592782-110592787

GTCTCA

TGAGCCG

intronic

De novo

-

Trost2022 G

IFT81

2-0003-003

chr12:
110594446-110594451

TGTGCA

CGCCCG

intronic

De novo

-

Trost2022 G

IFT81

1-0336-004

chr12:
110616085-110616085

A

C

intronic

De novo

-

Yuen2017 G

IFT81

3-0309-000

chr12:
110650609-110650609

T

A

intronic

De novo

-

Trost2022 G

IFT81

2-1093-005

chr12:
110616085-110616085

A

C

intronic

De novo

-

Yuen2017 G

IFT81

MSSNG00239-003

chr12:
110616148-110616148

G

T

intronic

De novo

-

Trost2022 G

IFT81

MSSNG00245-003

chr12:
110635538-110635538

A

T

intronic

De novo

-

Trost2022 G

IFT81

A218803

chr12:
110656011-110656011

G

A

exonic

De novo

nonsynonymous SNV

NM_001143779
NM_014055

c.G2011A
c.G2011A

p.E671K
p.E671K

12.74

-

Fu2022 E

IFT81

IGM1571557

chr12:
110618177-110618177

T

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

IFT81

AU4033305

chr12:
110618323-110618323

C

T

exonic

Paternal

stopgain

NM_001143779
NM_014055

c.C1285T
c.C1285T

p.Q429X
p.Q429X

36.0

-

Cirnigliaro2023 G

IFT81

1-0296-003

chr12:
110616085-110616085

A

C

intronic

De novo

-

Yuen2017 G

IFT81

AU3763305

chr12:
110717585-110717585

G

A

intergenic

De novo

-

Yuen2017 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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