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Results for "ANKRD12"

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
ANKRD12     5-0055-003chr18:
9225453-9225453
CCAAAintronicDe novo--Yuen2017 G
ANKRD12     AU050603chr18:
9295320-9295320
TGintergenicDe novo--Yuen2017 G
ANKRD12     AU2000304chr18:
9331235-9331235
GCintergenicDe novo--Yuen2017 G
ANKRD12     2-0298-003chr18:
9272817-9272817
AGintronicDe novo--Yuen2017 G
ANKRD12     2-0307-004chr18:
9160338-9160338
TCintronicDe novo--Yuen2017 G
ANKRD12     AU4212303chr18:
9287072-9287079
CTGTGTGTCTGTGTGTGTintergenicDe novo--Yuen2017 G
ANKRD12     EGAN00001101289chr18:
9280944-9280944
TGexonicDe novononsynonymous SNVNM_001083625
NM_001204056
NM_015208
c.T5940G
c.T5940G
c.T6009G
p.C1980W
p.C1980W
p.C2003W
13.9-Satterstrom2020 E
ANKRD12     1-0219-003chr18:
9225453-9225453
CCAAAintronicDe novo--Yuen2017 G
ANKRD12     7-0023-003chr18:
9214283-9214295
GGCTATACATAGCGGCintronicDe novo--Yuen2017 G
ANKRD12     5-0125-003chr18:
9210450-9210450
AGintronicDe novo--Yuen2017 G
ANKRD12     1-0458-003chr18:
9225453-9225453
CCAAAintronicDe novo--Yuen2017 G
ANKRD12     1-0352-003chr18:
9296670-9296670
CTintergenicDe novo--Yuen2016 G
ANKRD12     iHART1339chr18:
9255865-9255870
TAAAAGTexonicMaternalframeshift deletionNM_001083625
NM_001204056
NM_015208
c.2532_2536del
c.2532_2536del
c.2601_2605del
p.I844fs
p.I844fs
p.I867fs
-2.607E-5Ruzzo2019 G
ANKRD12     1-0352-005chr18:
9296670-9296670
CTintergenicDe novo--Yuen2017 G
ANKRD12     JASD_Fam0245chr18:
9221974-9221977
CTGACexonicDe novononframeshift deletionNM_001083625
NM_001204056
NM_015208
c.852_854del
c.852_854del
c.921_923del
p.284_285del
p.284_285del
p.307_308del
--Takata2018 E
ANKRD12     2-1358-003chr18:
9278534-9278534
CTintronicDe novo--Yuen2017 G
ANKRD12     1-0524-003chr18:
9242799-9242799
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ANKRD12     AU072504chr18:
9308165-9308165
CTintergenicDe novo--Yuen2017 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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