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Results for "TLK1"

Variant Events: 42

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
TLK1     SP0001246chr2:
171862995-171862995
TCexonicDe novononsynonymous SNVNM_001136555
NM_001136554
NM_012290
c.A1469G
c.A1613G
c.A1757G
p.D490G
p.D538G
p.D586G
20.8-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
TLK1     09C83748chr2:
171863055-171863055
AGexonicDe novononsynonymous SNVNM_001136555
NM_001136554
NM_012290
c.T1409C
c.T1553C
c.T1697C
p.M470T
p.M518T
p.M566T
18.11-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TLK1     SP0005107chr2:
171923540-171923541
GAGintronicDe novo--Fu2022 E
TLK1     2-1137-003chr2:
171937377-171937377
CCACAintronicDe novo--Yuen2016 G
TLK1     SP0078543 Complex Event; expand row to view variants  De novo--Fu2022 E
Trost2022 G
Trost2022 G
TLK1     1-0190-003chr2:
171918835-171918835
GAintronicDe novo--Yuen2017 G
TLK1     AU3728301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
TLK1     2-0270-004chr2:
172023223-172023223
CTintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     13720.p1chr2:
171906498-171906498
CAintronicMosaic, De novo--Dou2017 E
Satterstrom2020 E
Trost2022 G
TLK1     2-1288-003chr2:
171904198-171904198
TCintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     1-0388-003chr2:
171936950-171936950
ACintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     1-0065-004chr2:
172132726-172132726
CTintergenicDe novo--Yuen2017 G
TLK1     AU3865301chr2:
171944086-171944086
CGintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     iHART2449chr2:
171906323-171906323
CTsplicingPaternalsplicing26.3-Ruzzo2019 G
TLK1     1-0571-003chr2:
171949470-171949470
GCintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     mAGRE2449chr2:
171906323-171906323
CTsplicingPaternalsplicing26.3-Cirnigliaro2023 G
TLK1     1-0206-005chr2:
171878428-171878428
TCintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     REACH000627chr2:
171853664-171853664
TCintronicDe novo--Trost2022 G
TLK1     1-0092-004chr2:
171858610-171858611
TGTintronicDe novo--Trost2022 G
TLK1     2-1391-004chr2:
172006543-172006543
GAintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     1-0196-005chr2:
172087479-172087479
CGintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     MSSNG00355-004chr2:
171918497-171918497
CTintronicDe novo--Trost2022 G
TLK1     3-0208-000chr2:
171932269-171932269
TGintronicDe novo--Trost2022 G
TLK1     SMHC00860s000chr2:
171913006-171913006
TCexonicDe novononsynonymous SNVNM_001136555
NM_001136554
NM_012290
c.A236G
c.A380G
c.A524G
p.H79R
p.H127R
p.H175R
14.41-Yuan2023 E
TLK1     AU023012chr2:
171892494-171892494
ATintronicDe novo--Trost2022 G
TLK1     AU1725306chr2:
172159906-172159906
CTintergenicDe novo--Yuen2017 G
TLK1     1-0043-003chr2:
171905149-171905150
TCACAAGGACATintronicDe novo--Trost2022 G
TLK1     SJD_27.3chr2:
171876676-171876676
ATintronicDe novo--Trost2022 G
TLK1     1-1196-003chr2:
171886647-171886650
GCTCGintronicDe novo--Trost2022 G
TLK1     AU2777302chr2:
171863170-171863170
AGintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     5-0038-003chr2:
171866363-171866363
CTintronicDe novo--Trost2022 G
TLK1     7-0189-003chr2:
171876339-171876339
CTintronicDe novo--Trost2022 G
TLK1     5-5111-003chr2:
172041551-172041551
AGintronicDe novo--Trost2022 G
TLK1     MT_161.3chr2:
172018996-172018996
CTintronicDe novo--Trost2022 G
TLK1     3-0207-000chr2:
172021485-172021485
AGintronicDe novo--Trost2022 G
TLK1     3-0447-000chr2:
171962192-171962192
GAintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     5-5046-003chr2:
171979563-171979571
TAAATACACTintronicDe novo--Trost2022 G
TLK1     MSSNG00445-003chr2:
171988632-171988632
TGintronicDe novo--Trost2022 G
TLK1     5-0015-004chr2:
172006197-172006197
GAintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     1-1174-003chr2:
171968391-171968391
CTintronicDe novo--Trost2022 G
TLK1     5-0015-004chr2:
172028449-172028449
GTintronicDe novo--Trost2022 G
Yuen2017 G
TLK1     2-1278-003chr2:
171970715-171970715
GGAintronicDe novo--Trost2022 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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