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Results for "CD109"

Variant Events: 27

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
CD109     2-0214-004chr6:
74673510-74673510
TCintergenicDe novo--Yuen2017 G
CD109     1-0593-003chr6:
74666171-74666171
GAintergenicDe novo--Yuen2017 G
CD109     2-1277-004chr6:
74602880-74602880
GCintergenicDe novo--Yuen2017 G
CD109     AU066404chr6:
74635826-74635826
CAintergenicDe novo--Yuen2017 G
CD109     AU076509chr6:
74765804-74765804
GTintergenicDe novo--Yuen2017 G
CD109     7-0001-003chr6:
74721301-74721301
CAintergenicDe novo--Yuen2017 G
CD109     7-0001-003chr6:
74721842-74721842
GAintergenicDe novo--Yuen2017 G
CD109     1-0289-003chr6:
74656789-74656789
AGintergenicDe novo--Yuen2017 G
CD109     1-0565-004chr6:
74741996-74741996
GTintergenicDe novo--Yuen2017 G
CD109     5-0041-003chr6:
74714966-74714966
AGintergenicDe novo--Yuen2017 G
CD109     NDAR_INVWZ977FF5_wes1chr6:
74481335-74481335
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
CD109     2-0012-004chr6:
74745888-74745888
AGintergenicDe novo--Yuen2017 G
CD109     5-0106-003chr6:
74635566-74635566
CAintergenicDe novo--Yuen2017 G
CD109     1-0113-003chr6:
74407551-74407551
AGintronicDe novo--Yuen2016 G
CD109     2-1437-004chr6:
74671060-74671060
AGintergenicDe novo--Yuen2017 G
CD109     AU030804chr6:
74529020-74529020
TCintronicDe novo--Yuen2017 G
CD109     13637.p1chr6:
74416303-74416303
AGintronicDe novo--Wilfert2021 G
CD109     1-0559-003chr6:
74507834-74507834
TTAintronicDe novo--Yuen2017 G
CD109     2-1341-003chr6:
74618082-74618082
CTintergenicDe novo--Yuen2017 G
CD109     11336.p1chr6:
74440138-74440147
CTCTAATAGTCexonicDe novononframeshift deletionNM_001159587
NM_133493
c.349_357del
c.349_357del
p.117_119del
p.117_119del
--Dong2014 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
CD109     AU3636302chr6:
74582131-74582131
ATintergenicDe novo--Yuen2017 G
CD109     1-0160-004chr6:
74655650-74655650
AGintergenicDe novo--Yuen2017 G
CD109     1-0007-003chr6:
74671190-74671190
CGintergenicDe novo--Yuen2017 G
CD109     iHART2351chr6:
74520810-74520811
ACAexonicPaternalframeshift deletionNM_001159588
NM_001159587
NM_133493
c.3412delC
c.3643delC
c.3643delC
p.P1138fs
p.P1215fs
p.P1215fs
--Ruzzo2019 G
CD109     iHART1803chr6:
74533316-74533318
TTCTexonicMaternalframeshift deletionNM_001159588
NM_001159587
NM_133493
c.4067_4068del
c.4247_4248del
c.4298_4299del
p.F1356fs
p.F1416fs
p.F1433fs
-2.0E-4Ruzzo2019 G
CD109     iHART1454chr6:
74533180-74533180
AGsplicingPaternalsplicing10.831.0E-4Ruzzo2019 G
CD109     AU047703chr6:
74473089-74473089
GCintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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