Variant Results

or

Results for "IFT122"

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

IFT122

AU4372309

chr3:
129208699-129208699

A

T

intronic

De novo

-

Yuen2017 G

IFT122

PN400396

chr3:
129221570-129221570

C

T

exonic

Inherited

nonsynonymous SNV

NM_052990
NM_001280546
NM_018262
NM_001280541
NM_052989
NM_001280545
NM_052985

c.C2059T
c.C1765T
c.C2215T
c.C2368T
c.C2392T
c.C1942T
c.C2545T

p.R687C
p.R589C
p.R739C
p.R790C
p.R798C
p.R648C
p.R849C

24.2

4.128E-5

Leblond2019 E

IFT122

JASD_Fam0046

chr3:
129185800-129185800

A

G

exonic

De novo

nonsynonymous SNV

NM_052989
NM_001280545
NM_052985

c.A631G
c.A181G
c.A784G

p.I211V
p.I61V
p.I262V

10.4

-

Takata2018 E

IFT122

mAGRE5723

chr3:
129179814-129179814

C

A

exonic

Maternal

stopgain

NM_001280541
NM_052985

c.C390A
c.C390A

p.C130X
p.C130X

13.39

-

Cirnigliaro2023 G

IFT122

1-0952-003

chr3:
129166601-129166601

G

A

intronic

De novo

-

Trost2022 G

IFT122

7-0444-003

chr3:
129167545-129167545

T

A

intronic

De novo

-

Trost2022 G

IFT122

13266.p1

chr3:
129239066-129239066

C

G

exonic

De novo

nonsynonymous SNV

NM_052990
NM_001280546
NM_018262
NM_001280541
NM_052989
NM_001280545
NM_052985

c.C3354G
c.C3057G
c.C3507G
c.C3663G
c.C3684G
c.C3234G
c.C3837G

p.C1118W
p.C1019W
p.C1169W
p.C1221W
p.C1228W
p.C1078W
p.C1279W

13.59

1.839E-5

Ji2016 E
Krumm2015 E

IFT122

A26

chr3:
129240868-129240868

G

A

intergenic

De novo

-

Wu2018 G

IFT122

140009

chr3:
129239105-129239105

A

G

exonic

De novo

synonymous SNV

NM_052990
NM_001280546
NM_018262
NM_001280541
NM_052989
NM_001280545
NM_052985

c.A3393G
c.A3096G
c.A3546G
c.A3702G
c.A3723G
c.A3273G
c.A3876G

p.P1131P
p.P1032P
p.P1182P
p.P1234P
p.P1241P
p.P1091P
p.P1292P

-

Fu2022 E

IFT122

1-0037-004

chr3:
129173087-129173087

G

A

intronic

De novo

-

Trost2022 G

IFT122

MSSNG00158-003

chr3:
129196615-129196615

C

G

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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