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Results for "TCF20"

Variant Events: 38

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
TCF20     2-0244-003chr22:
42599370-42599370
TCintronicDe novo--Yuen2017 G
TCF20     1-0820-003chr22:
42628456-42628456
AGintronicDe novo--Yuen2017 G
TCF20     1-0736-003chr22:
42719994-42719994
GTintergenicDe novo--Yuen2017 G
TCF20     5-0018-003chr22:
42701316-42701316
TAintergenicDe novo--Yuen2017 G
TCF20     AU3809302chr22:
42662565-42662565
CTintronicDe novo--Yuen2017 G
TCF20     1-0565-004chr22:
42712946-42712946
TCintergenicDe novo--Yuen2017 G
TCF20     1-0565-004chr22:
42706903-42706903
GTintergenicDe novo--Yuen2017 G
TCF20     1-0835-003chr22:
42747634-42747634
CTintergenicDe novo--Yuen2017 G
TCF20     1-0565-004chr22:
42700068-42700068
GAintergenicDe novo--Yuen2017 G
TCF20     G01-GEA-219-HIchr22:
42610104-42610104
ATexonicDe novononsynonymous SNVNM_181492
NM_005650
c.T1208A
c.T1208A
p.V403E
p.V403E
16.09-Satterstrom2020 E
TCF20     G01-GEA-289-HIchr22:
42607367-42607369
ATCAexonicDe novoframeshift deletionNM_181492
NM_005650
c.3943_3944del
c.3943_3944del
p.D1315fs
p.D1315fs
--Satterstrom2020 E
TCF20     Torti2019:7chr22:
42609352-42609352
GAexonicUnknownstopgainNM_181492
NM_005650
c.C1960T
c.C1960T
p.Q654X
p.Q654X
39.0-Torti2019 T
TCF20     Torti2019:6chr22:
42609501-42609503
ACAAexonicDe novoframeshift deletionNM_181492
NM_005650
c.1809_1810del
c.1809_1810del
p.T603fs
p.T603fs
--Torti2019 T
TCF20     A11chr22:
42592749-42592749
TCintronicDe novo--Wu2018 G
TCF20     Torti2019:9chr22:
42609157-42609157
GAexonicDe novostopgainNM_181492
NM_005650
c.C2155T
c.C2155T
p.R719X
p.R719X
39.0-Torti2019 T
TCF20     Torti2019:8chr22:
42609222-42609224
TCATexonicDe novoframeshift deletionNM_181492
NM_005650
c.2088_2089del
c.2088_2089del
p.T696fs
p.T696fs
--Torti2019 T
TCF20     Torti2019:1chr22:
42610954-42610954
GGGexonicDe novoframeshift insertionNM_181492
NM_005650
c.358dupC
c.358dupC
p.P120fs
p.P120fs
--Torti2019 T
TCF20     AU031204chr22:
42654734-42654734
TCintronicDe novo--Yuen2017 G
TCF20     Torti2019:5chr22:
42609609-42609610
GGGexonicDe novoframeshift deletionNM_181492
NM_005650
c.1702delC
c.1702delC
p.P568fs
p.P568fs
--Torti2019 T
TCF20     Torti2019:2chr22:
42610689-42610690
AGAexonicDe novoframeshift deletionNM_181492
NM_005650
c.622delC
c.622delC
p.L208fs
p.L208fs
--Torti2019 T
TCF20     Torti2019:17achr22:
42607510-42607512
TCTTexonicUnknownframeshift deletionNM_181492
NM_005650
c.3800_3801del
c.3800_3801del
p.K1267fs
p.K1267fs
--Torti2019 T
TCF20     Torti2019:15chr22:
42607708-42607708
CCCexonicDe novoframeshift insertionNM_181492
NM_005650
c.3604dupG
c.3604dupG
p.G1202fs
p.G1202fs
--Torti2019 T
TCF20     Torti2019:17cchr22:
42607510-42607512
TCTTexonicUnknownframeshift deletionNM_181492
NM_005650
c.3800_3801del
c.3800_3801del
p.K1267fs
p.K1267fs
--Torti2019 T
TCF20     Torti2019:17bchr22:
42607510-42607512
TCTTexonicUnknownframeshift deletionNM_181492
NM_005650
c.3800_3801del
c.3800_3801del
p.K1267fs
p.K1267fs
--Torti2019 T
TCF20     Torti2019:10bchr22:
42609088-42609088
GAexonicUnknownstopgainNM_181492
NM_005650
c.C2224T
c.C2224T
p.R742X
p.R742X
40.0-Torti2019 T
TCF20     Torti2019:10achr22:
42609088-42609088
GAexonicUnknownstopgainNM_181492
NM_005650
c.C2224T
c.C2224T
p.R742X
p.R742X
40.0-Torti2019 T
TCF20     Torti2019:14chr22:
42607826-42607826
GGGexonicDe novoframeshift insertionNM_181492
NM_005650
c.3486dupC
c.3486dupC
p.R1162fs
p.R1162fs
--Torti2019 T
TCF20     Torti2019:12chr22:
42608718-42608718
GCexonicDe novostopgainNM_181492
NM_005650
c.C2594G
c.C2594G
p.S865X
p.S865X
40.0-Torti2019 T
TCF20     2-1731-003chr22:
42656417-42656417
CTintronicDe novo--Yuen2017 G
TCF20     2-1460-003chr22:
42570837-42570837
CAintronicDe novo--Yuen2017 G
TCF20     1-1004-003chr22:
42610276-42610276
GAexonicDe novostopgainNM_181492
NM_005650
c.C1036T
c.C1036T
p.Q346X
p.Q346X
23.7-Yuen2017 G
TCF20     2-1429-003chr22:
42629802-42629802
TGintronicDe novo--Yuen2017 G
TCF20     Torti2019:23chr22:
42605927-42605929
ACAAexonicDe novoframeshift deletionNM_181492
NM_005650
c.5383_5384del
c.5383_5384del
p.C1795fs
p.C1795fs
--Torti2019 T
TCF20     Torti2019:21chr22:
42606368-42606369
TGTexonicDe novoframeshift deletionNM_181492
NM_005650
c.4943delC
c.4943delC
p.T1648fs
p.T1648fs
--Torti2019 T
TCF20     IGM10609chr22:
42608019-42608019
TTAexonicDe novoframeshift insertionNM_181492
NM_005650
c.3292_3293insT
c.3292_3293insT
p.K1098fs
p.K1098fs
--Satterstrom2020 E
TCF20     Torti2019:24chr22:
42575639-42575639
GAexonicDe novononsynonymous SNVNM_181492
NM_005650
c.C5725T
c.C5725T
p.H1909Y
p.H1909Y
23.8-Torti2019 T
TCF20     7-0127-003chr22:
42652087-42652098
GGTCTACCCAAAGintronicDe novo--Yuen2017 G
TCF20     1-0201-004chr22:
42693184-42693184
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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