or
or
Exact

Results for "UACA"

Variant Events: 23

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     mAGRE5710chr15:
70960812-70960817
TGTTAATexonicPaternalframeshift deletionNM_001008224
NM_018003
c.2167_2171del
c.2206_2210del
p.L723fs
p.L736fs
-5.839E-5Cirnigliaro2023 G
UACA     2-1105-003chr15:
70994167-70994167
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
UACA     mAGRE5709chr15:
70960812-70960817
TGTTAATexonicPaternalframeshift deletionNM_001008224
NM_018003
c.2167_2171del
c.2206_2210del
p.L723fs
p.L736fs
-5.839E-5Cirnigliaro2023 G
UACA     SP0042387chr15:
70991875-70991875
CTexonicDe novononsynonymous SNVNM_001008224
NM_018003
c.G164A
c.G203A
p.G55D
p.G68D
26.6-Fu2022 E
Trost2022 G
Zhou2022 GE
UACA     2-1093-003chr15:
71064233-71064233
GTintergenicDe 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
Zhou2022 GE
UACA     MSSNG00003-003chr15:
71006255-71006256
CACintronicDe novo--Trost2022 G
UACA     SP0034444chr15:
70960059-70960059
AGexonicDe novosynonymous SNVNM_001008224
NM_018003
c.T2925C
c.T2964C
p.I975I
p.I988I
--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
UACA     GM181800chr15:
70983678-70983678
GAexonicDe novononsynonymous SNVNM_001008224
NM_018003
c.C287T
c.C326T
p.A96V
p.A109V
35.08.257E-6Fu2022 E
UACA     AU2770301chr15:
70988911-70988911
TCintronicDe novo--Trost2022 G
UACA     AU3885304chr15:
70978846-70978847
TATintronicDe novo--Yuen2017 G
UACA     7-0329-003chr15:
70997492-70997492
AGintronicDe novo--Trost2022 G
UACA     7-0351-004chr15:
70967908-70967908
TCintronicDe novo--Trost2022 G
UACA     5-0018-003chr15:
71064168-71064168
GAintergenicDe novo--Yuen2017 G
UACA     7-0346-003chr15:
70984783-70984783
TCintronicDe novo--Trost2022 G
UACA     2-1184-003chr15:
71122245-71122245
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
UACA     1027chr15:
70954809-70954809
CTintronicDe novo--Trost2022 G
UACA     3-0785-000chr15:
70963818-70963818
TCintronicDe novo--Trost2022 G
UACA     1-0380-003chr15:
71108505-71108505
GAintergenicDe novo--Yuen2017 G
UACA     2-1689-003chr15:
70963290-70963290
TCintronicDe novo--Trost2022 G
Yuen2017 G
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

, -

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