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Results for "R3HDM1"

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
R3HDM1     AU055004 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
R3HDM1     1-0160-004chr2:
136384821-136384821
TTATTGintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     AU072504chr2:
136450371-136450371
TCintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     AU2458303chr2:
136490252-136490253
TGTintergenicDe novo--Yuen2017 G
R3HDM1     11378.p1chr2:
136328793-136328793
TGintronicDe novo--Werling2018 G
R3HDM1     2-0033-003chr2:
136477550-136477550
GAintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     AU4412302chr2:
136468869-136468869
TCintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     7-0248-003chr2:
136451652-136451652
AGintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     AU3808305chr2:
136398703-136398703
ATintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     3-0621-000Achr2:
136402285-136402285
TCintronicDe novo--Trost2022 G
R3HDM1     MSSNG00386-003chr2:
136404390-136404390
GCintronicDe novo--Trost2022 G
R3HDM1     3-0328-000chr2:
136385199-136385199
TCintronicDe novo--Trost2022 G
R3HDM1     4-0074-003chr2:
136391661-136391661
CAintronicDe novo--Trost2022 G
R3HDM1     1044chr2:
136341124-136341124
TCintronicDe novo--Trost2022 G
R3HDM1     SP0161406chr2:
136365411-136365411
ACintronicDe novo--Trost2022 G
R3HDM1     98HI0575Achr2:
136403086-136403087
ATAexonicDe novoframeshift deletionNM_001282799
NM_001282800
NM_001282798
NM_015361
c.1226delT
c.1445delT
c.1613delT
c.1613delT
p.I409fs
p.I482fs
p.I538fs
p.I538fs
--Fu2022 E
R3HDM1     1-0413-003chr2:
136442792-136442792
ACintronicDe novo--Yuen2016 G
Yuen2017 G
R3HDM1     7-0240-004chr2:
136467657-136467657
GAexonicDe novosynonymous SNVNM_001282799
NM_001282800
NM_001282798
NM_015361
c.G2103A
c.G2322A
c.G2490A
c.G2487A
p.G701G
p.G774G
p.G830G
p.G829G
7.8491.649E-5Trost2022 G
Zhou2022 GE
R3HDM1     1-0452-005chr2:
136482303-136482303
TAUTR3De novo--Trost2022 G
R3HDM1     2-1526-004chr2:
136388121-136388121
TGintronicDe novo--Trost2022 G
Yuen2017 G
R3HDM1     7-0387-003chr2:
136440981-136440981
GAintronicDe novo--Trost2022 G
R3HDM1     3-0475-000chr2:
136471560-136471560
ACintronicDe 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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