or
or
Exact

Results for "IQGAP1"

Variant Events: 8

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
IQGAP1     2-1280-003chr15:
91035611-91035611
CTintronicDe novo--Yuen2017 G
IQGAP1     iHART1268chr15:
91017158-91017158
CTexonicPaternalstopgainNM_003870c.C2464Tp.R822X22.8-Ruzzo2019 G
IQGAP1     7-0161-003chr15:
91004627-91004627
TAintronicDe novo--Yuen2017 G
IQGAP1     iHART2436chr15:
90992863-90992863
CTexonicMaternalstopgainNM_003870c.C1150Tp.Q384X36.01.101E-5Ruzzo2019 G
IQGAP1     iHART2435chr15:
90992863-90992863
CTexonicMaternalstopgainNM_003870c.C1150Tp.Q384X36.01.101E-5Ruzzo2019 G
IQGAP1     13762.p1chr15:
91010810-91010810
CTexonicDe novononsynonymous SNVNM_003870c.C2164Tp.R722W15.0-Ji2016 E
Krumm2015 E
IQGAP1     AU4028302chr15:
91059485-91059485
AGintergenicDe novo--Yuen2017 G
IQGAP1     AU3915301chr15:
90953082-90953082
GTintronicDe 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 notesView
More