or
or
Exact

Results for "TIMD4"

Variant Events: 22

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
TIMD4     08C72840chr5:
156378835-156378835
CTintronicDe novo-1.655E-5Satterstrom2020 E
Trost2022 G
TIMD4     1-0274-004chr5:
156404879-156404879
ATintergenicDe novo--Yuen2017 G
TIMD4     1-1072-003chr5:
156379894-156379894
GAintronicDe novo--Trost2022 G
TIMD4     7-0346-003chr5:
156387607-156387607
GAintronicDe novo--Trost2022 G
TIMD4     iHART1559chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Ruzzo2019 G
TIMD4     5-0038-003chr5:
156366072-156366072
TGintronicDe novo--Trost2022 G
TIMD4     5-1007-003chr5:
156377449-156377449
GAintronicDe novo--Trost2022 G
TIMD4     2-1169-003chr5:
156363798-156363798
CAintronicDe novo--Trost2022 G
Yuen2017 G
TIMD4     SMHC01820d000chr5:
156376694-156376694
GTexonicDe novononsynonymous SNVNM_001146726
NM_138379
c.C728A
c.C728A
p.T243N
p.T243N
10.27-Yuan2023 E
TIMD4     mAGRE2253chr5:
156381649-156381649
GTexonicPaternalstopgainNM_001146726
NM_138379
c.C177A
c.C177A
p.C59X
p.C59X
19.43-Cirnigliaro2023 G
TIMD4     iHART1560chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Ruzzo2019 G
TIMD4     mAGRE1075chr5:
156378730-156378730
GAexonicPaternalstopgainNM_001146726
NM_138379
c.C472T
c.C472T
p.R158X
p.R158X
16.161.0E-4Cirnigliaro2023 G
TIMD4     iHART1562chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Ruzzo2019 G
TIMD4     mAGRE1562chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Cirnigliaro2023 G
TIMD4     1-0329-004chr5:
156423803-156423804
GAGintergenicDe novo--Yuen2017 G
TIMD4     iHART2253chr5:
156381649-156381649
GTexonicPaternalstopgainNM_001146726
NM_138379
c.C177A
c.C177A
p.C59X
p.C59X
19.43-Ruzzo2019 G
TIMD4     7-0385-003chr5:
156388830-156388830
AGintronicDe novo--Trost2022 G
TIMD4     mAGRE1560chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Cirnigliaro2023 G
TIMD4     iHART1075chr5:
156378730-156378730
GAexonicPaternalstopgainNM_001146726
NM_138379
c.C472T
c.C472T
p.R158X
p.R158X
16.161.0E-4Ruzzo2019 G
TIMD4     mAGRE1559chr5:
156353273-156353273
CTsplicingPaternalsplicing6.0271.0E-4Cirnigliaro2023 G
TIMD4     1-0486-003chr5:
156427950-156427950
CAintergenicDe novo--Yuen2017 G
TIMD4     AU3057301chr5:
156405010-156405010
AGintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More