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Results for "KANSL1"

Variant Events: 28

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
KANSL1     AU4145303chr17:
44106577-44106577
ACdownstreamDe novo--Yuen2017 G
KANSL1     AU3636301chr17:
44214839-44214839
AGintronicDe novo--Yuen2017 G
KANSL1     AU3889305chr17:
44317655-44317655
CTintergenicDe novo--Yuen2017 G
KANSL1     AU2019302chr17:
44182938-44182938
GAintronicDe novo--Yuen2017 G
KANSL1     2-1459-003chr17:
44324718-44324718
ATintergenicDe novo--Yuen2017 G
KANSL1     AU034904chr17:
44154812-44154812
TCintronicDe novo--Yuen2017 G
KANSL1     AU050910chr17:
44210236-44210236
GAintronicDe novo--Yuen2017 G
KANSL1     AU3636302chr17:
44214839-44214839
AGintronicDe novo--Yuen2017 G
KANSL1     SF0083901.p1chr17:
44143976-44143976
CTexonicDe novononsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G1775A
c.G1775A
c.G1775A
p.R592Q
p.R592Q
p.R592Q
27.8-Wang2020 T
KANSL1     388852chr17:
44248783-44248783
GAexonicUnknownstopgainNM_001193466
NM_015443
NM_001193465
c.C727T
c.C727T
c.C727T
p.Q243X
p.Q243X
p.Q243X
24.0-Wang2020 T
Wang2020 T
Wang2020 T
KANSL1     AU4056302chr17:
44114401-44114405
CAGAGCAGintronicDe novo--Yuen2017 G
KANSL1     81015992chr17:
44108859-44108859
GAexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.C3301T
c.C3301T
c.C3298T
p.R1101C
p.R1101C
p.R1100C
23.0-Wang2020 T
Wang2020 T
KANSL1     11305.p1chr17:
44248781-44248781
TGexonicMosaic, De novononsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.A729C
c.A729C
c.A729C
p.Q243H
p.Q243H
p.Q243H
15.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
KANSL1     2-1567-004chr17:
44339600-44339600
GGCCAintergenicDe novo--Yuen2017 G
KANSL1     PN400286chr17:
44111564-44111564
CTexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G2629A
c.G2629A
c.G2626A
p.V877I
p.V877I
p.V876I
23.3-Leblond2019 E
KANSL1     388846chr17:
44248783-44248783
GAexonicUnknownstopgainNM_001193466
NM_015443
NM_001193465
c.C727T
c.C727T
c.C727T
p.Q243X
p.Q243X
p.Q243X
24.0-Wang2020 T
Wang2020 T
KANSL1     HEN0092.p1chr17:
44109484-44109484
GAexonicPaternalnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.C3019T
c.C3019T
c.C3016T
p.R1007W
p.R1007W
p.R1006W
27.3-Wang2020 T
Wang2020 T
KANSL1     AU2075302chr17:
44192839-44192839
GAintronicDe novo--Yuen2017 G
KANSL1     1-0755-003chr17:
44318359-44318359
CTintergenicDe novo--Yuen2017 G
KANSL1     AU4093302chr17:
44131831-44131831
CAintronicDe novo--Yuen2017 G
KANSL1     64634058chr17:
44109642-44109642
CTexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G2861A
c.G2861A
c.G2858A
p.R954Q
p.R954Q
p.R953Q
34.09.395E-6Wang2020 T
Wang2020 T
KANSL1     V6E2Echr17:
44128048-44128048
CTexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G1871A
c.G1871A
c.G1871A
p.R624H
p.R624H
p.R624H
27.28.41E-6Wang2020 T
Wang2020 T
KANSL1     AU3806304chr17:
44245107-44245110
CAATCintronicDe novo--Yuen2017 G
KANSL1     211-5356-3chr17:
44108939-44108939
CTexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G3221A
c.G3221A
c.G3218A
p.R1074Q
p.R1074Q
p.R1073Q
21.68.484E-6Wang2020 T
Wang2020 T
KANSL1     2-1361-003chr17:
44362230-44362230
CTintergenicDe novo--Yuen2017 G
KANSL1     1-0541-003chr17:
44241879-44241879
TCintronicDe novo--Yuen2017 G
KANSL1     U3V4Pchr17:
44171936-44171936
CTexonicUnknownnonsynonymous SNVNM_001193466
NM_015443
NM_001193465
c.G1421A
c.G1421A
c.G1421A
p.R474H
p.R474H
p.R474H
28.31.648E-5Wang2020 T
Wang2020 T
KANSL1     2-1368-003chr17:
44309552-44309552
CTintergenicDe 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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