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Results for "KNTC1"

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
KNTC1     AU3875301chr12:
123028169-123028169
TTAexonicMaternalframeshift insertionNM_014708c.547dupAp.S182fs--Cirnigliaro2023 G
KNTC1     mAGRE5448chr12:
123011899-123011899
GAsplicingMaternalsplicing--Cirnigliaro2023 G
KNTC1     mAGRE5447chr12:
123011899-123011899
GAsplicingMaternalsplicing--Cirnigliaro2023 G
KNTC1     11124.p1chr12:
123065120-123065120
CTintronicMosaic--Dou2017 E
KNTC1     2-1736-003chr12:
123184445-123184446
GAGintergenicDe novo--Yuen2017 G
KNTC1     2-1250-003chr12:
123047369-123047369
CCATGintronicDe novo--Yuen2017 G
KNTC1     mAGRE2844chr12:
123067355-123067357
AACAexonicPaternalframeshift deletionNM_014708c.3087_3088delp.K1029fs-8.989E-6Cirnigliaro2023 G
KNTC1     mAGRE5192chr12:
123060399-123060399
CTexonicPaternalstopgainNM_014708c.C2539Tp.R847X41.08.634E-6Cirnigliaro2023 G
KNTC1     mAGRE6196chr12:
123028169-123028169
TTAexonicMaternalframeshift insertionNM_014708c.547dupAp.S182fs--Cirnigliaro2023 G
KNTC1     iHART2844chr12:
123067355-123067357
AACAexonicPaternalframeshift deletionNM_014708c.3087_3088delp.K1029fs-8.989E-6Ruzzo2019 G
KNTC1     AU0243-0201chr12:
123087169-123087169
GTexonicDe novosynonymous SNVNM_014708c.G4707Tp.V1569V--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KNTC1     2-1089-004chr12:
123047369-123047369
CCATGintronicDe novo--Trost2022 G
Yuen2017 G
KNTC1     Shi2013:2chr12:
123067384-123067384
AGexonicInheritednonsynonymous SNVNM_014708c.A3115Gp.I1039V0.0066.0E-4Shi2013 G
KNTC1     2-0299-003chr12:
123060025-123060025
GAintronicDe novo--Trost2022 G
Yuen2017 G
KNTC1     AU066404chr12:
123023659-123023659
CTintronicDe novo--Trost2022 G
Yuen2017 G
KNTC1     12693.p1chr12:
123087166-123087166
CTexonicDe novosynonymous SNVNM_014708c.C4704Tp.P1568P-2.581E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
KNTC1     Shi2013:1chr12:
123067384-123067384
AGexonicInheritednonsynonymous SNVNM_014708c.A3115Gp.I1039V0.0066.0E-4Shi2013 G
KNTC1     SP0014626chr12:
123067180-123067180
CAintronicDe novo--Fu2022 E
KNTC1     SP0198413chr12:
123019195-123019195
CAintronicDe novo-0.0012Trost2022 G
KNTC1     SP0066774chr12:
123067485-123067485
GCexonicDe novononsynonymous SNVNM_014708c.G3216Cp.L1072F19.39-Trost2022 G
KNTC1     1-0099-003chr12:
123098465-123098465
GAintronicDe novo--Trost2022 G
Yuen2017 G
KNTC1     G01-GEA-122-HIchr12:
123105032-123105033
AGAexonicDe novoframeshift deletionNM_014708c.6157delGp.V2053fs--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KNTC1     3C140chr12:
123105038-123105038
AGexonicDe novosynonymous SNVNM_014708c.A6162Gp.S2054S--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KNTC1     SP0128869chr12:
123107182-123107197
ACTGTGGAATTTCCTTAintronicDe novo--Fu2022 E
KNTC1     SSC04797chr12:
123087166-123087166
CTexonicDe novosynonymous SNVNM_014708c.C4704Tp.P1568P-2.581E-5Fu2022 E
Lim2017 E
Trost2022 G
KNTC1     2-1277-003chr12:
123113181-123113181
TGintergenicDe novo--Yuen2017 G
KNTC1     1-0541-004chr12:
123047369-123047369
CCATGintronicDe novo--Trost2022 G
Yuen2017 G
KNTC1     2-0304-003chr12:
123017992-123017992
GTintronicDe novo--Trost2022 G
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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