or
or
Exact

Results for "COLEC12"

Variant Events: 21

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
COLEC12     AU071203chr18:
493311-493311
CAintronicDe novo--Yuen2017 G
COLEC12     AU3885304chr18:
358167-358167
GTintronicDe novo--Yuen2017 G
COLEC12     11078.p1chr18:
321720-321720
CAexonicDe novononsynonymous SNVNM_130386c.G2151Tp.W717C19.89-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
COLEC12     AU2293302chr18:
578219-578219
GAintergenicDe novo--Yuen2017 G
COLEC12     1-0380-003chr18:
386739-386739
GAintronicDe novo--Yuen2017 G
COLEC12     AU3889305chr18:
487298-487298
GAintronicDe novo--Yuen2017 G
COLEC12     AU078503chr18:
364832-364832
TAintronicDe novo--Yuen2017 G
COLEC12     AU3811301chr18:
420594-420594
GAintronicDe novo--Yuen2017 G
COLEC12     2-1338-003chr18:
545053-545053
CTintergenicDe novo--Yuen2017 G
COLEC12     1-0339-003chr18:
549093-549093
TCintergenicDe novo--Yuen2017 G
COLEC12     1-0175-003chr18:
498377-498377
TTTTTTTTTTGintronicDe novo--Yuen2017 G
COLEC12     2-1562-004chr18:
433859-433859
GAintronicDe novo--Yuen2017 G
COLEC12     SSC07588chr18:
348118-348118
CTexonicDe novononsynonymous SNVNM_130386c.G227Ap.R76H6.793.298E-5Lim2017 E
COLEC12     SSC00010chr18:
321720-321720
CAexonicDe novononsynonymous SNVNM_130386c.G2151Tp.W717C19.89-Lim2017 E
COLEC12     2-1174-006chr18:
440788-440788
GCintronicDe novo--Yuen2017 G
COLEC12     13334.p1chr18:
348118-348118
CTexonicDe novononsynonymous SNVNM_130386c.G227Ap.R76H6.793.298E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
COLEC12     2-1281-003chr18:
435952-435952
GAintronicDe novo--Yuen2017 G
COLEC12     1-0294-003chr18:
459579-459579
GAintronicDe novo--Yuen2016 G
Yuen2017 G
COLEC12     AU3765302chr18:
498874-498874
TCintronicDe novo--Yuen2017 G
COLEC12     2-0109-003chr18:
465436-465440
CCTTTCintronicDe novo--Yuen2017 G
COLEC12     AU3885305chr18:
578118-578118
AGintergenicDe 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