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Results for "PAMR1"

Variant Events: 16

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
PAMR1     2-1086-003chr11:
35506845-35506845
ACintronicDe novo--Yuen2017 G
PAMR1     AU4239301chr11:
35628527-35628527
GCintergenicDe novo--Yuen2017 G
PAMR1     AU060803chr11:
35508581-35508581
GAintronicDe novo--Yuen2017 G
PAMR1     iHART1291chr11:
35513623-35513623
GAexonicMaternalstopgainNM_001001991
NM_001282676
NM_015430
NM_001282675
c.C349T
c.C349T
c.C349T
c.C229T
p.R117X
p.R117X
p.R117X
p.R77X
38.04.125E-5Ruzzo2019 G
PAMR1     iHART3156chr11:
35496177-35496177
CAsplicingPaternalsplicing17.163.303E-5Ruzzo2019 G
PAMR1     SP0015379chr11:
35492253-35492253
CTexonicDe novononsynonymous SNVNM_001001991
NM_015430
NM_001282675
c.G608A
c.G608A
c.G488A
p.R203Q
p.R203Q
p.R163Q
19.776.591E-5Feliciano2019 E
PAMR1     iHART1295chr11:
35513623-35513623
GAexonicMaternalstopgainNM_001001991
NM_001282676
NM_015430
NM_001282675
c.C349T
c.C349T
c.C349T
c.C229T
p.R117X
p.R117X
p.R117X
p.R77X
38.04.125E-5Ruzzo2019 G
PAMR1     2-1514-003chr11:
35611427-35611427
GTintergenicDe novo--Yuen2017 G
PAMR1     iHART3155chr11:
35496177-35496177
CAsplicingPaternalsplicing17.163.303E-5Ruzzo2019 G
PAMR1     iHART1014chr11:
35463028-35463028
CAsplicingMaternalsplicing20.49.067E-5Ruzzo2019 G
PAMR1     1-0186-004chr11:
35465812-35465812
GCintronicDe novo--Yuen2017 G
PAMR1     2-0242-004chr11:
35520743-35520743
TCintronicDe novo--Yuen2017 G
PAMR1     AU024004chr11:
35624128-35624128
GAintergenicDe novo--Yuen2017 G
PAMR1     1-0289-004chr11:
35548915-35548915
CTintronicDe novo--Yuen2017 G
PAMR1     AU2333302chr11:
35559588-35559588
CGintergenicDe novo--Yuen2017 G
PAMR1     1-0551-004chr11:
35582593-35582593
GAintergenicDe 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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