or
or
Exact

Results for "ADA2"

Variant Events: 9

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
ADA2     2-1094-005chr22:
17708707-17708707
CAintergenicDe novo--Yuen2017 G
ADA2     2-1456-004chr22:
17699351-17699351
CTintronicDe novo--Yuen2017 G
ADA2     iHART2409chr22:
17672634-17672634
GAexonicPaternalstopgainNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228
c.C97T
c.C460T
c.C820T
c.C820T
c.C694T
c.C694T
p.Q33X
p.Q154X
p.Q274X
p.Q274X
p.Q232X
p.Q232X
24.9-Ruzzo2019 G
ADA2     09C91621chr22:
17662817-17662817
CTexonicDe novononsynonymous SNVNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228
c.G612A
c.G975A
c.G1335A
c.G1335A
c.G1209A
c.G1209A
p.M204I
p.M325I
p.M445I
p.M445I
p.M403I
p.M403I
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
ADA2     2-1336-004chr22:
17679152-17679152
CTintronicDe novo--Yuen2017 G
ADA2     AU4228301chr22:
17647955-17647955
CTintergenicDe novo--Yuen2017 G
ADA2     iHART2411chr22:
17672634-17672634
GAexonicPaternalstopgainNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228
c.C97T
c.C460T
c.C820T
c.C820T
c.C694T
c.C694T
p.Q33X
p.Q154X
p.Q274X
p.Q274X
p.Q232X
p.Q232X
24.9-Ruzzo2019 G
ADA2     iHART2410chr22:
17672634-17672634
GAexonicPaternalstopgainNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228
c.C97T
c.C460T
c.C820T
c.C820T
c.C694T
c.C694T
p.Q33X
p.Q154X
p.Q274X
p.Q274X
p.Q232X
p.Q232X
24.9-Ruzzo2019 G
ADA2     iHART2412chr22:
17672634-17672634
GAexonicPaternalstopgainNM_177405
NM_001282229
NM_001282225
NM_001282226
NM_001282227
NM_001282228
c.C97T
c.C460T
c.C820T
c.C820T
c.C694T
c.C694T
p.Q33X
p.Q154X
p.Q274X
p.Q274X
p.Q232X
p.Q232X
24.9-Ruzzo2019 G
Source Variant Information

, -

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
More