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Results for "IFT81"

Variant Events: 16

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     1-0181-004chr12:
110655240-110655240
CTintronicDe novo--Yuen2017 G
IFT81     AU2072302chr12:
110611782-110611782
GAintronicDe novo--Yuen2017 G
IFT81     1-0354-006chr12:
110616085-110616085
ACintronicDe novo--Yuen2017 G
IFT81     AU057405chr12:
110590883-110590883
GAintronicDe novo--Yuen2017 G
IFT81     12380.p1chr12:
110565272-110565272
GCexonicDe novononsynonymous SNVNM_001143779
NM_014055
NM_031473
c.G87C
c.G87C
c.G87C
p.L29F
p.L29F
p.L29F
17.75.322E-5Ji2016 E
Krumm2015 E
IFT81     A4chr12:
110584326-110584326
TCintronicDe novo--Wu2018 G
IFT81     2-1277-004chr12:
110616085-110616085
ACintronicDe novo--Yuen2017 G
IFT81     iHART3265chr12:
110618323-110618323
CTexonicPaternalstopgainNM_001143779
NM_014055
c.C1285T
c.C1285T
p.Q429X
p.Q429X
36.0-Ruzzo2019 G
IFT81     1-0336-004chr12:
110616085-110616085
ACintronicDe novo--Yuen2017 G
IFT81     2-1093-005chr12:
110616085-110616085
ACintronicDe novo--Yuen2017 G
IFT81     1-0191-003chr12:
110701481-110701481
GGAGTGAintergenicDe novo--Yuen2017 G
IFT81     IGM1571557chr12:
110618177-110618177
TAintronicDe novo--Satterstrom2020 E
IFT81     12493.p1chr12:
110680976-110680976
GCintergenicDe novo--Turner2016 G
IFT81     1-0296-003chr12:
110616085-110616085
ACintronicDe novo--Yuen2017 G
IFT81     SJD_10chr12:
110566766-110566766
GAexonicPaternalnonsynonymous SNVNM_001143779
NM_014055
NM_031473
c.G260A
c.G260A
c.G260A
p.R87H
p.R87H
p.R87H
25.18.242E-6Toma2013 E
IFT81     AU3763305chr12:
110717585-110717585
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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