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Results for "DMXL2"

Variant Events: 17

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
DMXL2     AU4473301chr15:
51913371-51913371
ACintronicDe novo--Yuen2017 G
DMXL2     PN400103chr15:
51766634-51766636
CTGCexonicUnknownframeshift deletionNM_001174117
NM_001174116
NM_015263
c.5207_5208del
c.7118_7119del
c.7115_7116del
p.A1736fs
p.A2373fs
p.A2372fs
-4.507E-5Leblond2019 E
DMXL2     SP0047953chr15:
51787314-51787314
CTexonicDe novononsynonymous SNVNM_001174117
NM_001174116
NM_015263
c.G2782A
c.G4690A
c.G4690A
p.E928K
p.E1564K
p.E1564K
36.0-Fu2022 E
DMXL2     1-0150-004chr15:
51740202-51740202
AAATUTR3De novo--Yuen2017 G
DMXL2     78730chr15:
51763583-51763583
GCexonicDe novononsynonymous SNVNM_001174117
NM_001174116
NM_015263
c.C5318G
c.C7229G
c.C7226G
p.S1773C
p.S2410C
p.S2409C
20.7-Fu2022 E
DMXL2     11085.p1chr15:
51747337-51747337
GAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DMXL2     14077.p1chr15:
51766611-51766611
CTexonicDe novononsynonymous SNVNM_001174117
NM_001174116
NM_015263
c.G5232A
c.G7143A
c.G7140A
p.M1744I
p.M2381I
p.M2380I
28.1-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
DMXL2     14014.p1chr15:
51763583-51763583
GCexonicDe novononsynonymous SNVNM_001174117
NM_001174116
NM_015263
c.C5318G
c.C7229G
c.C7226G
p.S1773C
p.S2410C
p.S2409C
20.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
DMXL2     AU046707chr15:
51845564-51845570
GTATATAGTAintronicDe novo--Yuen2017 G
DMXL2     AU3858303chr15:
51801309-51801309
GAintronicDe novo--Yuen2017 G
DMXL2     1-0455-004chr15:
51961056-51961056
GAintergenicDe novo--Yuen2017 G
DMXL2     AU3777302chr15:
51883648-51883648
ACintronicDe novo--Yuen2017 G
DMXL2     1-0558-003chr15:
51826471-51826471
TAintronicDe novo--Yuen2017 G
DMXL2     SSC10270chr15:
51766611-51766611
CTexonicDe novononsynonymous SNVNM_001174117
NM_001174116
NM_015263
c.G5232A
c.G7143A
c.G7140A
p.M1744I
p.M2381I
p.M2380I
28.1-Fu2022 E
Lim2017 E
DMXL2     AU3885305chr15:
51827494-51827494
TCintronicDe novo--Yuen2017 G
DMXL2     11942.p1chr15:
51791966-51791966
TCexonicMosaicnonsynonymous SNVNM_001174116
NM_015263
c.A3455G
c.A3455G
p.D1152G
p.D1152G
16.11-Dou2017 E
Krupp2017 E
DMXL2     2-1605-003chr15:
51948155-51948155
GAintergenicDe 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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