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Results for "ANKRD31"

Variant Events: 26

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
ANKRD31     Li2017:21chr5:
74401031-74401031
CCTCTATGGAexonicUnknownstopgainNM_001164443c.4181_4182insTCCATAGAp.E1394_S1395delinsDPX--Li2017 T
ANKRD31     Li2017:15chr5:
74491509-74491509
CAexonicUnknownstopgainNM_001164443c.G964Tp.E322X17.7-Li2017 T
ANKRD31     A16chr5:
74401033-74401033
CCCTATGGATexonicDe novoframeshift insertionNM_001164443c.4179_4180insATCCATAGp.E1394fs--Wu2018 G
ANKRD31     1-0563-003chr5:
74494116-74494116
CCTintronicDe novo--Yuen2017 G
ANKRD31     A6chr5:
74491509-74491509
CAexonicDe novostopgainNM_001164443c.G964Tp.E322X17.7-Wu2018 G
ANKRD31     SP0086715chr5:
74400049-74400049
ACintronicDe novo--Fu2022 E
ANKRD31     13999.p1chr5:
74443349-74443349
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
ANKRD31     60-2027chr5:
74598010-74598010
AGintergenicDe novo--Michaelson2012 G
ANKRD31     2-1163-003chr5:
74547870-74547870
GAintergenicDe novo--Yuen2017 G
ANKRD31     1-0373-003chr5:
74519515-74519515
ACintronicDe novo--Yuen2017 G
ANKRD31     AU3053301chr5:
74560527-74560527
AGintergenicDe novo--Yuen2017 G
ANKRD31     AU050603chr5:
74389346-74389346
AGintronicDe novo--Yuen2017 G
ANKRD31     AU4007301chr5:
74613926-74613926
CGintergenicDe novo--Yuen2017 G
ANKRD31     iHART1738chr5:
74532412-74532412
TAexonicMaternalstopgainNM_001164443c.A100Tp.R34X40.0-Ruzzo2019 G
ANKRD31     iHART1740chr5:
74532412-74532412
TAexonicMaternalstopgainNM_001164443c.A100Tp.R34X40.0-Ruzzo2019 G
ANKRD31     2-1358-003chr5:
74423423-74423423
TAintronicDe novo--Yuen2017 G
ANKRD31     AU4032307chr5:
74617669-74617669
GAintergenicDe novo--Yuen2017 G
ANKRD31     AU050604chr5:
74513984-74513984
GTintronicDe novo--Yuen2017 G
ANKRD31     Li2017:23157chr5:
74400949-74400949
GGTexonicUnknownframeshift insertionNM_001164443c.4263dupAp.Q1422fs-3.0E-4Li2017 T
ANKRD31     2-1300-003chr5:
74539018-74539018
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ANKRD31     AU3646301chr5:
74537388-74537388
AGintergenicDe novo--Yuen2017 G
ANKRD31     2-1466-003chr5:
74539838-74539838
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ANKRD31     Li2017:16082chr5:
74401031-74401031
CCTCTATGGAexonicUnknownstopgainNM_001164443c.4181_4182insTCCATAGAp.E1394_S1395delinsDPX--Li2017 T
ANKRD31     2-1605-003chr5:
74382699-74382699
CTintronicDe novo--Yuen2017 G
ANKRD31     AU3720302chr5:
74601689-74601689
GAintergenicDe novo--Yuen2017 G
ANKRD31     A1386Bchr5:
74484431-74484431
CTexonicDe novononsynonymous SNVNM_001164443c.G1451Ap.R484Q13.23-Fu2022 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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