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Results for "CEMIP"

Variant Events: 12

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
CEMIP     AU4412302chr15:
81098388-81098388
AGintronicDe novo--Yuen2017 G
CEMIP     2-1398-004chr15:
81112768-81112768
TCintronicDe novo--Yuen2017 G
CEMIP     7-0253-004chr15:
81115904-81115904
CTintronicDe novo--Yuen2017 G
CEMIP     7-0253-004chr15:
81234421-81234421
CTintronicDe novo--Yuen2017 G
CEMIP     iHART2731chr15:
81214479-81214479
GCsplicingPaternalsplicing24.5-Ruzzo2019 G
CEMIP     1-0233-004chr15:
81230224-81230224
CTexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304
c.C3311T
c.C3311T
c.C3311T
p.T1104M
p.T1104M
p.T1104M
17.352.475E-5Yuen2017 G
CEMIP     7-0255-003chr15:
81228654-81228671
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
CEMIP     10C108727chr15:
81230224-81230224
CTexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304
c.C3311T
c.C3311T
c.C3311T
p.T1104M
p.T1104M
p.T1104M
17.352.475E-5Fu2022 E
Satterstrom2020 E
CEMIP     2-1264-003chr15:
81199991-81199991
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CEMIP     200675674_1082034765chr15:
81224214-81224214
GCexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304
c.G2627C
c.G2627C
c.G2627C
p.R876T
p.R876T
p.R876T
16.11-Fu2022 E
CEMIP     13857_p1chr15:
81218090-81218090
GCexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304
c.G2414C
c.G2414C
c.G2414C
p.S805T
p.S805T
p.S805T
14.46-Fu2022 E
CEMIP     Chen2017:104chr15:
81224214-81224214
GCexonicDe novononsynonymous SNVNM_018689
NM_001293298
NM_001293304
c.G2627C
c.G2627C
c.G2627C
p.R876T
p.R876T
p.R876T
16.11-Chen2017 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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