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Results for "MACC1"

Variant Events: 18

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
MACC1     2-1626-003chr7:
20219504-20219504
GCintronicDe novo--Trost2022 G
Yuen2017 G
MACC1     1-0674-004chr7:
20274739-20274739
TAintergenicDe novo--Yuen2017 G
MACC1     MSSNG00367-004chr7:
20227598-20227598
GAintronicDe novo--Trost2022 G
MACC1     iHART1145chr7:
20199855-20199856
TGTexonicMaternalframeshift deletionNM_182762c.128delCp.P43fs-2.0E-4Ruzzo2019 G
MACC1     4-0073-003chr7:
20208872-20208874
GAAAATintronicDe novo--Trost2022 G
MACC1     2-1109-004chr7:
20225751-20225751
GAintronicDe novo--Trost2022 G
MACC1     12828.p1chr7:
20199205-20199205
ACexonicDe novononsynonymous SNVNM_182762c.T779Gp.M260R4.2882.474E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
MACC1     iHART1146chr7:
20199855-20199856
TGTexonicMaternalframeshift deletionNM_182762c.128delCp.P43fs-2.0E-4Ruzzo2019 G
MACC1     AU3911301chr7:
20321543-20321543
TGintergenicDe novo--Yuen2017 G
MACC1     AU2950302chr7:
20311759-20311759
GAintergenicDe novo--Yuen2017 G
MACC1     mAGRE1146chr7:
20199855-20199856
TGTexonicMaternalframeshift deletionNM_182762c.128delCp.P43fs-2.0E-4Cirnigliaro2023 G
MACC1     mAGRE1145chr7:
20199855-20199856
TGTexonicMaternalframeshift deletionNM_182762c.128delCp.P43fs-2.0E-4Cirnigliaro2023 G
MACC1     mAGRE5312chr7:
20198950-20198950
TTACexonicMaternalframeshift insertionNM_182762c.1033_1034insGTp.Y345fs--Cirnigliaro2023 G
MACC1     mAGRE5842chr7:
20180774-20180774
CTexonicPaternalstopgainNM_182762c.G2354Ap.W785X43.06.021E-5Cirnigliaro2023 G
MACC1     mAGRE5841chr7:
20180774-20180774
CTexonicPaternalstopgainNM_182762c.G2354Ap.W785X43.06.021E-5Cirnigliaro2023 G
MACC1     3-0185-000chr7:
20310125-20310125
GAintergenicDe novo--Yuen2017 G
MACC1     12828_p1chr7:
20199205-20199205
ACexonicDe novononsynonymous SNVNM_182762c.T779Gp.M260R4.2882.474E-5Fu2022 E
MACC1     AU12104chr7:
20199071-20199071
TCexonicDe novononsynonymous SNVNM_182762c.A913Gp.M305V13.28-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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