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Results for "ANKMY1"

Variant Events: 8

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
ANKMY1     1-0673-003chr2:
241495303-241495303
TCintronicDe novo--Yuen2017 G
ANKMY1     2-0299-005chr2:
241467272-241467272
TAintronicDe novo--Yuen2017 G
ANKMY1     286-05-103511chr2:
241463656-241463656
CTexonicDe novononsynonymous SNVNM_001282780
NM_001308375
NM_017844
NM_016552
NM_001282771
c.G788A
c.G1025A
c.G788A
c.G1211A
c.G1478A
p.R263H
p.R342H
p.R263H
p.R404H
p.R493H
0.8817.452E-5Satterstrom2020 E
ANKMY1     PN400149chr2:
241463346-241463346
GAexonicDe novosynonymous SNVNM_001282780
NM_001308375
NM_017844
NM_001282781
NM_016552
NM_001282771
c.C1098T
c.C1335T
c.C1098T
c.C804T
c.C1521T
c.C1788T
p.S366S
p.S445S
p.S366S
p.S268S
p.S507S
p.S596S
-8.304E-6Leblond2019 E
ANKMY1     1-0508-003chr2:
241487642-241487642
ACintronicDe novo--Yuen2017 G
ANKMY1     AU3866301chr2:
241492375-241492375
GAexonicDe novostopgainNM_016552
NM_001282771
NM_001282780
NM_001282781
NM_001308375
NM_017844
c.C169T
c.C436T
c.C436T
c.C436T
c.C673T
c.C436T
p.R57X
p.R146X
p.R146X
p.R146X
p.R225X
p.R146X
11.061.649E-5Yuen2017 G
ANKMY1     2-1735-003chr2:
241500280-241500280
CAexonicDe novononsynonymous SNVNM_001033575
NM_001308375
c.C179A
c.G88T
p.A60E
p.A30S
11.33-Yuen2017 G
ANKMY1     iHART1717chr2:
241451277-241451277
CTsplicingPaternalsplicing9.369-Ruzzo2019 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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