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Results for "KANK1"

Variant Events: 39

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
KANK1     11108.p1chr9:
712508-712508
GAexonicDe novononsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G1268A
c.G1742A
c.G1742A
c.G1742A
p.C423Y
p.C581Y
p.C581Y
p.C581Y
13.378.241E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
KANK1     2-1318-004chr9:
484310-484310
CGintronicDe novo--Yuen2017 G
KANK1     2-1318-004chr9:
480696-480696
CTintronicDe novo--Yuen2017 G
KANK1     2-1318-004chr9:
478899-478899
CTintronicDe novo--Yuen2017 G
KANK1     2-1093-009chr9:
723832-723832
CTintronicDe novo--Yuen2017 G
KANK1     PN400321chr9:
738322-738322
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G2897A
c.G3371A
c.G3371A
c.G3371A
p.R966H
p.R1124H
p.R1124H
p.R1124H
34.06.0E-4Leblond2019 E
KANK1     MT_160chr9:
742297-742297
GCexonicMaternalnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G3315C
c.G3789C
c.G3789C
c.G3789C
p.Q1105H
p.Q1263H
p.Q1263H
p.Q1263H
23.7-Toma2013 E
KANK1     1-0126-003chr9:
741434-741434
TCintronicDe novo--Yuen2017 G
KANK1     PN400508chr9:
738322-738322
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G2897A
c.G3371A
c.G3371A
c.G3371A
p.R966H
p.R1124H
p.R1124H
p.R1124H
34.06.0E-4Leblond2019 E
KANK1     1-0469-005chr9:
629021-629021
GCintronicDe novo--Yuen2017 G
KANK1     2-1093-009chr9:
752147-752147
CGintergenicDe novo--Yuen2017 G
KANK1     2-1093-009chr9:
745997-745997
GCUTR3De novo--Yuen2017 G
KANK1     3-0436-000chr9:
638097-638097
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KANK1     2-0006-004chr9:
752690-752690
GAintergenicDe novo--Yuen2017 G
KANK1     2-1170-003chr9:
700179-700179
TGintronicDe novo--Yuen2017 G
KANK1     1-0203-003chr9:
772037-772037
GAintergenicDe novo--Yuen2017 G
KANK1     AU066404chr9:
553503-553503
CTintronicDe novo--Yuen2017 G
KANK1     SSC00803chr9:
712508-712508
GAexonicDe novononsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G1268A
c.G1742A
c.G1742A
c.G1742A
p.C423Y
p.C581Y
p.C581Y
p.C581Y
13.378.241E-6Lim2017 E
KANK1     iHART3132chr9:
730250-730250
TGsplicingMaternalsplicing20.41.654E-5Ruzzo2019 G
KANK1     PN400215chr9:
738322-738322
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G2897A
c.G3371A
c.G3371A
c.G3371A
p.R966H
p.R1124H
p.R1124H
p.R1124H
34.06.0E-4Leblond2019 E
KANK1     PN400371chr9:
742245-742245
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G3263A
c.G3737A
c.G3737A
c.G3737A
p.R1088Q
p.R1246Q
p.R1246Q
p.R1246Q
26.9-Leblond2019 E
KANK1     7-0249-003chr9:
501567-501567
TCintronicDe novo--Yuen2017 G
KANK1     2-1207-003chr9:
650055-650055
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KANK1     PN400341chr9:
742245-742245
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G3263A
c.G3737A
c.G3737A
c.G3737A
p.R1088Q
p.R1246Q
p.R1246Q
p.R1246Q
26.9-Leblond2019 E
KANK1     AU3586303chr9:
585738-585738
GAintronicDe novo--Yuen2017 G
KANK1     1-0484-003chr9:
700872-700876
GAACAGintronicDe novo--Yuen2017 G
KANK1     1-0559-003chr9:
764294-764294
AGintergenicDe novo--Yuen2017 G
KANK1     AU1988301chr9:
598636-598651
TTTTTTTTTTTTTTTGTintronicDe novo--Yuen2017 G
KANK1     AU2072302chr9:
824581-824581
TAintergenicDe novo--Yuen2017 G
KANK1     AU2072302chr9:
827128-827128
GCintergenicDe novo--Yuen2017 G
KANK1     AU2072302chr9:
837245-837245
CAintergenicDe novo--Yuen2017 G
KANK1     AU4359301chr9:
681017-681017
CGintronicDe novo--Yuen2017 G
KANK1     AU050604chr9:
681866-681866
TCintronicDe novo--Yuen2017 G
KANK1     80001103406chr9:
734797-734797
AGexonicDe novononsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.A2821G
c.A3295G
c.A3295G
c.A3295G
p.T941A
p.T1099A
p.T1099A
p.T1099A
16.2-Satterstrom2020 E
KANK1     1-0261-004chr9:
594375-594375
GAintronicDe novo--Yuen2017 G
KANK1     2-1318-004chr9:
471334-471334
CGintronicDe novo--Yuen2017 G
KANK1     PN400534chr9:
738322-738322
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G2897A
c.G3371A
c.G3371A
c.G3371A
p.R966H
p.R1124H
p.R1124H
p.R1124H
34.06.0E-4Leblond2019 E
KANK1     PN400115chr9:
738322-738322
GAexonicUnknownnonsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876
c.G2897A
c.G3371A
c.G3371A
c.G3371A
p.R966H
p.R1124H
p.R1124H
p.R1124H
34.06.0E-4Leblond2019 E
KANK1     2-0013-003chr9:
549949-549949
AGintronicDe 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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