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Results for "ZFPM2"

Variant Events: 24

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
ZFPM2     AU1933302chr8:
106713015-106713015
GAintronicDe novo--Yuen2017 G
ZFPM2     P1153chr8:
106813565-106813565
GAexonicDe novononsynonymous SNVNM_012082c.G1255Ap.E419K11.11.659E-5Hashimoto2016 E
ZFPM2     AU3052302chr8:
106639654-106639654
TAintronicDe novo--Yuen2017 G
ZFPM2     SSC00193chr8:
106814868-106814868
AGexonicDe novononsynonymous SNVNM_012082c.A2558Gp.Y853C15.81-Lim2017 E
ZFPM2     2-1391-004chr8:
106429261-106429261
CAintronicDe novo--Yuen2017 G
ZFPM2     2-1397-003chr8:
106525284-106525284
CGintronicDe novo--Yuen2017 G
ZFPM2     AU1725302chr8:
106415994-106415994
TAintronicDe novo--Yuen2017 G
ZFPM2     1-0295-003chr8:
106775167-106775167
TAintronicDe novo--Yuen2017 G
ZFPM2     AU3716302chr8:
106502058-106502058
TCintronicDe novo--Yuen2017 G
ZFPM2     1-0925-003chr8:
106530218-106530218
AGintronicDe novo--Yuen2017 G
ZFPM2     1-0259-005chr8:
106453673-106453673
AAAGintronicDe novo--Yuen2017 G
ZFPM2     AU0540301chr8:
106404295-106404295
TGintronicDe novo--Yuen2017 G
ZFPM2     1-0674-004chr8:
106632388-106632388
TCintronicDe novo--Yuen2017 G
ZFPM2     1-0567-003chr8:
106453681-106453681
AAAGintronicDe novo--Yuen2017 G
ZFPM2     AU3903301chr8:
106412113-106412113
CAintronicDe novo--Yuen2017 G
ZFPM2     1-0175-004chr8:
106658322-106658322
CCATintronicDe novo--Yuen2017 G
ZFPM2     11442.p1chr8:
106814868-106814868
AGexonicDe novononsynonymous SNVNM_012082c.A2558Gp.Y853C15.81-Ji2016 E
Krumm2015 E
ZFPM2     7-0123-003chr8:
106631772-106631772
TAintronicDe novo--Yuen2017 G
ZFPM2     AU056204chr8:
106456436-106456436
TGintronicDe novo--Yuen2017 G
ZFPM2     2-0003-004chr8:
106530167-106530167
CTintronicDe novo--Yuen2017 G
ZFPM2     AU012804chr8:
106556301-106556301
AGintronicDe novo--Yuen2017 G
ZFPM2     2-0090-003chr8:
106545790-106545790
CTintronicDe novo--Yuen2017 G
ZFPM2     AU3903301chr8:
106412360-106412360
ATintronicDe novo--Yuen2017 G
ZFPM2     14072.p1chr8:
106815698-106815698
ACexonicDe novononsynonymous SNVNM_012082c.A3388Cp.N1130H16.07-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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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