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Results for "XIRP2"

Variant Events: 58

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
XIRP2     DEASD_0287_001chr2:
168103957-168103957
CTexonicDe novononsynonymous SNVNM_001199144
NM_152381
c.C5389T
c.C6055T
p.P1797S
p.P2019S
1.936-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
XIRP2     3-0434-000chr2:
168063054-168063054
CTintronicDe novo--Yuen2016 G
Yuen2017 G
XIRP2     2-0116-005chr2:
168665156-168665158
GATGintergenicDe novo--Yuen2017 G
XIRP2     2-0122-004chr2:
167998928-167998928
TCintronicDe novo--Yuen2017 G
XIRP2     01C05903chr2:
168104951-168104951
CTexonicDe novononsynonymous SNVNM_001199144
NM_152381
c.C6383T
c.C7049T
p.P2128L
p.P2350L
15.37-Satterstrom2020 E
XIRP2     2-1207-003chr2:
168439505-168439505
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
XIRP2     AU3730301chr2:
167970834-167970840
CTTTTTTCTTTintronicDe novo--Yuen2017 G
XIRP2     AU4186302chr2:
168638864-168638864
AGintergenicDe novo--Yuen2017 G
XIRP2     AU4173301chr2:
168118333-168118333
CGintergenicDe novo--Yuen2017 G
XIRP2     2-1185-003chr2:
167999593-167999593
TGintronicDe novo--Yuen2017 G
XIRP2     2-1417-003chr2:
168452669-168452669
AAGintergenicDe novo--Yuen2017 G
XIRP2     AU3646301chr2:
168559207-168559207
AGintergenicDe novo--Yuen2017 G
XIRP2     iHART3297chr2:
168102211-168102211
CTexonicMaternalstopgainNM_001199144
NM_152381
c.C3643T
c.C4309T
p.R1215X
p.R1437X
42.06.0E-4Ruzzo2019 G
XIRP2     iHART1611chr2:
168101944-168101944
CTexonicMaternalstopgainNM_001199144
NM_152381
c.C3376T
c.C4042T
p.R1126X
p.R1348X
42.03.0E-4Ruzzo2019 G
XIRP2     2-1239-003chr2:
168181962-168181962
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
XIRP2     2-1371-003chr2:
168619273-168619273
AAATintergenicDe novo--Yuen2016 G
XIRP2     AU3777301chr2:
168595553-168595553
AGintergenicDe novo--Yuen2017 G
XIRP2     2-0022-005chr2:
168457061-168457067
TCCCCCCTCCCCCCCintergenicDe novo--Yuen2017 G
XIRP2     iHART2292chr2:
168103313-168103314
GTGexonicMaternalframeshift deletionNM_001199144
NM_152381
c.4746delT
c.5412delT
p.S1582fs
p.S1804fs
--Ruzzo2019 G
XIRP2     iHART1790chr2:
168102970-168102974
ACTATAexonicMaternalframeshift deletionNM_001199144
NM_152381
c.4403_4406del
c.5069_5072del
p.T1468fs
p.T1690fs
-8.314E-6Ruzzo2019 G
XIRP2     1-0367-003chr2:
168423006-168423025
TATAATAATAATAATAATAATATAATAATAATAATAAintergenicDe novo--Yuen2017 G
XIRP2     5-0125-003chr2:
168658478-168658478
AGintergenicDe novo--Yuen2017 G
XIRP2     1-0547-003chr2:
168200057-168200057
TAintergenicDe novo--Yuen2017 G
XIRP2     2-0297-003chr2:
168658679-168658679
GTintergenicDe novo--Yuen2017 G
XIRP2     2-1381-003chr2:
168476839-168476839
CTintergenicDe novo--Yuen2017 G
XIRP2     AU4153301chr2:
167923834-167923834
GAintronicDe novo--Yuen2017 G
XIRP2     2-1168-003chr2:
168165917-168165917
GTintergenicDe novo--Yuen2017 G
XIRP2     1-0303-004chr2:
167886486-167886486
ACintronicDe novo--Yuen2017 G
XIRP2     2-0223-003chr2:
168665158-168665158
TGintergenicDe novo--Yuen2017 G
XIRP2     AU072505chr2:
168040981-168040981
CTintronicDe novo--Yuen2017 G
XIRP2     AU076705chr2:
168509864-168509864
AGintergenicDe novo--Yuen2017 G
XIRP2     AU4479301chr2:
168322270-168322270
CTintergenicDe novo--Yuen2017 G
XIRP2     AU4479301chr2:
168325297-168325297
CTintergenicDe novo--Yuen2017 G
XIRP2     1-0674-003chr2:
167943995-167943995
CTintronicDe novo--Yuen2017 G
XIRP2     AU4308302chr2:
168106680-168106680
CAexonicDe novononsynonymous SNVNM_001199144
NM_152381
c.C8112A
c.C8778A
p.F2704L
p.F2926L
0.232-Yuen2017 G
XIRP2     1-0274-004chr2:
168207860-168207860
GGTTTTintergenicDe novo--Yuen2017 G
XIRP2     3-0134-000chr2:
168113853-168113853
ACintronicDe novo--Yuen2017 G
XIRP2     AU1995302chr2:
168286567-168286567
TCintergenicDe novo--Yuen2017 G
XIRP2     1-0107-003chr2:
168127170-168127170
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
XIRP2     2-1143-003chr2:
167937278-167937278
AGintronicDe novo--Yuen2017 G
XIRP2     1-0627-005chr2:
168292443-168292443
TAintergenicDe novo--Yuen2017 G
XIRP2     1-0359-003chr2:
168557010-168557010
AGintergenicDe novo--Yuen2017 G
XIRP2     AU4079302chr2:
168330105-168330105
CTintergenicDe novo--Yuen2017 G
XIRP2     1-0459-004chr2:
168260183-168260183
TCintergenicDe novo--Yuen2017 G
XIRP2     1-1004-003chr2:
167820288-167820288
CTintronicDe novo--Yuen2017 G
XIRP2     AU055004chr2:
167885912-167885912
TAintronicDe novo--Yuen2017 G
XIRP2     2-1605-003chr2:
167759046-167759046
GAintronicDe novo--Yuen2017 G
XIRP2     AU1635302chr2:
167745838-167745838
GAintronicDe novo--Yuen2017 G
XIRP2     1-0445-003chr2:
168637977-168637977
AGintergenicDe novo--Yuen2017 G
XIRP2     2-1205-003chr2:
168123022-168123037
TTGTGTGTGTGTGTGTTTGTGTGTGTGTGTintergenicDe novo--Yuen2017 G
XIRP2     1-0274-003chr2:
168207860-168207860
GGTTTTintergenicDe novo--Yuen2017 G
XIRP2     2-0219-004chr2:
168560479-168560479
CCAGGAintergenicDe novo--Yuen2017 G
XIRP2     1-0673-003chr2:
168145249-168145249
TAintergenicDe novo--Yuen2017 G
XIRP2     5-0017-004chr2:
167853895-167853895
CTintronicDe novo--Yuen2017 G
XIRP2     AU4032305chr2:
168115348-168115348
AGexonicDe novononsynonymous SNVNM_001199145
NM_001079810
NM_001199143
c.A1626G
c.A2292G
c.A2391G
p.I542M
p.I764M
p.I797M
14.44-Yuen2017 G
XIRP2     3-0325-000chr2:
168103257-168103257
TCexonicDe novosynonymous SNVNM_001199144
NM_152381
c.T4689C
c.T5355C
p.V1563V
p.V1785V
--Tammimies2015 E
XIRP2     1-0898-003chr2:
167878547-167878547
TGintronicDe novo--Yuen2017 G
XIRP2     1-0368-004chr2:
168238681-168238681
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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