or
or
Exact

Results for "ABLIM1"

Variant Events: 24

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
ABLIM1     2-1255-003chr10:
116256054-116256054
TCintronicDe novo--Yuen2017 G
ABLIM1     3-0215-000chr10:
116233698-116233698
CTexonicDe novosynonymous SNVNM_006720
NM_001003407
NM_002313
NM_001003408
c.G195A
c.G879A
c.G1059A
c.G963A
p.S65S
p.S293S
p.S353S
p.S321S
5.776-Tammimies2015 E
ABLIM1     AU031203chr10:
116511314-116511314
TCintergenicDe novo--Yuen2017 G
ABLIM1     1-0563-004chr10:
116441277-116441277
AGintronicDe novo--Yuen2017 G
ABLIM1     1-1004-003chr10:
116318904-116318904
CTintronicDe novo--Yuen2017 G
ABLIM1     5-0099-003chr10:
116403029-116403029
CTintronicDe novo--Yuen2017 G
ABLIM1     2-1318-004chr10:
116519138-116519138
AGintergenicDe novo--Yuen2017 G
ABLIM1     2-1644-004chr10:
116200778-116200778
CTexonicDe novononsynonymous SNVNM_006720
NM_001003407
NM_002313
NM_001003408
c.G1088A
c.G1877A
c.G2057A
c.G1961A
p.R363Q
p.R626Q
p.R686Q
p.R654Q
16.87-Yuen2017 G
ABLIM1     AU076808chr10:
116219843-116219843
ACintronicDe novo--Yuen2017 G
ABLIM1     AU1909304chr10:
116410822-116410826
ACCCCACCCCCintronicDe novo--Yuen2017 G
ABLIM1     2-0323-004chr10:
116272692-116272692
ACintronicDe novo--Yuen2017 G
ABLIM1     2-1644-003chr10:
116200778-116200778
CTexonicDe novononsynonymous SNVNM_006720
NM_001003407
NM_002313
NM_001003408
c.G1088A
c.G1877A
c.G2057A
c.G1961A
p.R363Q
p.R626Q
p.R686Q
p.R654Q
16.87-Yuen2017 G
ABLIM1     2-0070-004chr10:
116486402-116486402
GAintergenicDe novo--Yuen2017 G
ABLIM1     2-1562-004chr10:
116251788-116251788
GAintronicDe novo--Yuen2017 G
ABLIM1     AU015903chr10:
116291564-116291564
CTintronicDe novo--Yuen2017 G
ABLIM1     2-0289-004chr10:
116465699-116465699
TCintergenicDe novo--Yuen2017 G
ABLIM1     5-0114-003chr10:
116407725-116407725
TAintronicDe novo--Yuen2017 G
ABLIM1     AU1933302chr10:
116519689-116519689
TCintergenicDe novo--Yuen2017 G
ABLIM1     2-1356-003chr10:
116275090-116275090
GAintronicDe novo--Yuen2017 G
ABLIM1     2-1562-003chr10:
116251788-116251788
GAintronicDe novo--Yuen2017 G
ABLIM1     1-0290-003chr10:
116325402-116325402
AATintronicDe novo--Yuen2017 G
ABLIM1     1-0547-003chr10:
116236672-116236672
GAintronicDe novo--Yuen2017 G
ABLIM1     2-0296-004chr10:
116386186-116386186
CTintronicDe novo--Yuen2017 G
ABLIM1     2-0299-003chr10:
116467510-116467510
ACintergenicDe 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