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Results for "UACA"

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
UACA     2-1508-003chr15:
71094434-71094434
TCintergenicDe novo--Yuen2017 G
UACA     SP0034444chr15:
70960059-70960059
AGexonicDe novosynonymous SNVNM_001008224
NM_018003
c.T2925C
c.T2964C
p.I975I
p.I988I
--Feliciano2019 E
UACA     AU3885304chr15:
70978846-70978847
TATintronicDe novo--Yuen2017 G
UACA     2-1105-003chr15:
70994167-70994167
ACintronicDe novo--Yuen2016 G
Yuen2017 G
UACA     5-0018-003chr15:
71064168-71064168
GAintergenicDe novo--Yuen2017 G
UACA     2-1184-003chr15:
71122245-71122245
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
UACA     1-0380-003chr15:
71108505-71108505
GAintergenicDe novo--Yuen2017 G
UACA     2-1093-003chr15:
71064233-71064233
GTintergenicDe novo--Yuen2017 G
UACA     2-1689-003chr15:
70963290-70963290
TCintronicDe novo--Yuen2017 G
UACA     09C83077chr15:
70957107-70957107
TCexonicDe novononsynonymous SNVNM_001008224
NM_018003
c.A3968G
c.A4007G
p.N1323S
p.N1336S
10.263.0E-4DeRubeis2014 E
Kosmicki2017 E
UACA     1-0751-003chr15:
71082697-71082697
GTintergenicDe novo--Yuen2017 G
UACA     Cukier2014:37024chr15:
70959422-70959422
CAexonicUnknownnonsynonymous SNVNM_001008224
NM_018003
c.G3562T
c.G3601T
p.V1188F
p.V1201F
15.616.0E-4Cukier2014 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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