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Results for "DMXL1"

Variant Events: 10

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
DMXL1     Cukier2014:37674chr5:
118506652-118506652
CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509
c.C6166T
c.C5647T
c.C6166T
p.R2056C
p.R1883C
p.R2056C
16.854.124E-5Cukier2014 E
DMXL1     1-0464-003chr5:
118426623-118426623
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DMXL1     2-1086-003chr5:
118472107-118472107
AGintronicDe novo--Yuen2017 G
DMXL1     AU066404chr5:
118573465-118573465
AGintronicDe novo--Yuen2017 G
DMXL1     2-1325-003chr5:
118431147-118431147
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DMXL1     Cukier2014:17678chr5:
118505962-118505962
CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509
c.C5476T
c.C4957T
c.C5476T
p.R1826C
p.R1653C
p.R1826C
17.172.0E-4Cukier2014 E
DMXL1     5-0077-003chr5:
118516099-118516099
AAGTintronicDe novo--Yuen2017 G
DMXL1     AU4233301chr5:
118483971-118483973
GCCGCintronicDe novo--Yuen2017 G
DMXL1     NDAR_INVAN341TAD_wes1chr5:
118485784-118485784
CTexonicDe novononsynonymous SNVNM_001290321
NM_001290322
NM_005509
c.C4262T
c.C3743T
c.C4262T
p.S1421L
p.S1248L
p.S1421L
11.08-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DMXL1     5-0077-004chr5:
118516099-118516099
AAGTintronicDe 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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