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Results for "MGAM2"

Variant Events: 12

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
MGAM2     MSSNG00164-003chr7:
141921102-141921102
AGexonicnonsynonymous SNVNM_001293626c.A6791Gp.N2264S--Zhou2022 GE
MGAM2     11740.p1chr7:
141891404-141891406
ATACTCintronicMaternal--Wilfert2021 G
MGAM2     AU031204chr7:
141847371-141847374
CTTGCexonicframeshift deletionNM_001293626c.1633_1634delp.L545fs--Zhou2022 GE
MGAM2     AU054303chr7:
141833124-141833130
ATATATTATintronicDe novo--Yuen2017 G
MGAM2     2-1330-003chr7:
141861704-141861704
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MGAM2     Wang2023:319chr7:
141921513-141921513
GCexonicDe novononsynonymous SNVNM_001293626c.G7202Cp.S2401T--Wang2023 E
MGAM2     5-0041-003chr7:
141844232-141844232
TCintronicDe novo--Yuen2017 G
MGAM2     111292chr7:
141859115-141859115
CAexonicnonsynonymous SNVNM_001293626c.C2192Ap.P731H22.1-Woodbury-Smith2022 E
MGAM2     1-0381-003chr7:
141819031-141819031
TAintronicDe novo--Yuen2017 G
MGAM2     7-0100-003chr7:
141880272-141880272
CTintronicDe novo--Yuen2017 G
MGAM2     AU4092302chr7:
141823049-141823049
CTintronicDe novo--Yuen2017 G
MGAM2     1-0627-007chr7:
141939298-141939298
TCintergenicDe 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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