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Results for "MROH8"

Variant Events: 13

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
MROH8     2-0171-003chr20:
35760882-35760882
CTintronicDe novo--Yuen2017 G
MROH8     AU3175302chr20:
35802409-35802410
ATAexonicPaternalunknown-2.491E-5Cirnigliaro2023 G
MROH8     mAGRE5797chr20:
35740805-35740805
CTexonicPaternalunknown39.0-Cirnigliaro2023 G
MROH8     mAGRE5796chr20:
35740805-35740805
CTexonicPaternalunknown39.0-Cirnigliaro2023 G
MROH8     12175.p1chr20:
35746030-35746030
GAintronicDe novo--Turner2016 G
MROH8     1-0560-003chr20:
35781747-35781754
CAAAAAAACAAAAAAAAintronicDe novo--Yuen2017 G
MROH8     AU3858302chr20:
35740753-35740753
CAexonicPaternalunknown37.04.0E-4Cirnigliaro2023 G
MROH8     iHART1339chr20:
35740745-35740746
TCTexonicMaternalunknown--Ruzzo2019 G
MROH8     mAGRE1339chr20:
35740745-35740746
TCTexonicMaternalunknown--Cirnigliaro2023 G
MROH8     2-0045-003chr20:
35788537-35788537
TGexonicDe novounknown5.062-Yuen2016 G
Yuen2017 G
Zhou2022 GE
MROH8     1-0303-003chr20:
35735219-35735219
TAintronicDe novo--Yuen2017 G
MROH8     AU1952305chr20:
35785027-35785027
TCintronicDe novo--Yuen2017 G
MROH8     AU3849303chr20:
35752705-35752705
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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