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Results for "ESR1"

Variant Events: 38

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
ESR1     AU4145301chr6:
152023729-152023729
ACintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     1-0175-003chr6:
152411078-152411078
CTintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     1-0436-003chr6:
152425249-152425249
AGdownstreamDe novo--Yuen2016 G
Yuen2017 G
ESR1     A30chr6:
152154955-152154955
CTintronicDe novo--Wu2018 G
ESR1     2-1313-003chr6:
152166210-152166210
CTintronicDe novo--Yuen2017 G
ESR1     AU3866301chr6:
152282392-152282392
CTintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     2-1243-003chr6:
152135435-152135435
TGintronicDe novo--Trost2022 G
ESR1     2-1547-003chr6:
152198044-152198052
CACAGAAGGCintronicDe novo--Trost2022 G
ESR1     2-1179-003chr6:
152085875-152085875
GAintronicDe novo--Trost2022 G
ESR1     REACH000202chr6:
152109673-152109673
GAintronicDe novo--Trost2022 G
ESR1     2-0102-004chr6:
152119323-152119323
GCintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     2-1775-003chr6:
152061098-152061098
GAintronicDe novo--Trost2022 G
ESR1     AU2718301chr6:
152378056-152378056
AGintronicDe novo--Trost2022 G
ESR1     AU4260303chr6:
152249738-152249738
GAintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     SJD_8.4chr6:
152387566-152387566
AGintronicDe novo--Trost2022 G
ESR1     MT_44.3chr6:
152301934-152301934
GTintronicDe novo--Trost2022 G
ESR1     7-0327-003chr6:
152333722-152333722
AGintronicDe novo--Trost2022 G
ESR1     2-1140-003chr6:
152018331-152018331
CTintronicDe novo--Yuen2017 G
ESR1     5-5159-003chr6:
152279360-152279360
CTintronicDe novo--Trost2022 G
ESR1     AU2000302chr6:
152428367-152428367
AGintergenicDe novo--Trost2022 G
Yuen2017 G
ESR1     1-0947-003chr6:
152283382-152283382
TAintronicDe novo--Trost2022 G
ESR1     SP0184125chr6:
152201867-152201867
CTexonicDe novononsynonymous SNVNM_000125
NM_001122740
NM_001122741
NM_001291230
NM_001291241
NM_001122742
c.C721T
c.C721T
c.C721T
c.C727T
c.C721T
c.C721T
p.R241W
p.R241W
p.R241W
p.R243W
p.R241W
p.R241W
21.6-Trost2022 G
ESR1     AU3399303chr6:
152137221-152137221
GAintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     MSSNG00362-003chr6:
152211305-152211305
CTintronicDe novo--Trost2022 G
ESR1     2-0129-004chr6:
152084869-152084869
CTintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     More2023:10chr6:
152265352-152265352
CTexonicInheritednonsynonymous SNVNM_000125
NM_001122740
NM_001122741
NM_001291230
NM_001291241
NM_001122742
c.C805T
c.C805T
c.C805T
c.C811T
c.C802T
c.C805T
p.R269C
p.R269C
p.R269C
p.R271C
p.R268C
p.R269C
24.40.001More2023 G
ESR1     REACH000316chr6:
152394981-152394981
CTintronicDe novo--Trost2022 G
ESR1     2-1169-003chr6:
152401333-152401336
TAAACACCintronicDe novo--Trost2022 G
ESR1     1-0175-004chr6:
152411078-152411078
CTintronicDe novo--Yuen2017 G
ESR1     1-0292-005chr6:
152159957-152159957
GAintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     2-1605-004chr6:
152024769-152024769
TGintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     09C81507chr6:
152420085-152420085
TCexonicDe novononsynonymous SNVNM_000125
NM_001122740
NM_001122741
NM_001291230
NM_001291241
NM_001122742
c.T1772C
c.T1772C
c.T1772C
c.T1778C
c.T1769C
c.T1772C
p.F591S
p.F591S
p.F591S
p.F593S
p.F590S
p.F591S
13.684.977E-5Fu2022 E
ESR1     3-0209-000chr6:
152389851-152389851
GAintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     AU2123302chr6:
152100406-152100406
AGintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     AU071703chr6:
152134042-152134042
AGintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     1-0345-004chr6:
152041495-152041495
CAintronicDe novo--Trost2022 G
Yuen2017 G
ESR1     AU4347301chr6:
152437178-152437178
CTintergenicDe novo--Trost2022 G
Yuen2017 G
ESR1     2-1116-003chr6:
152264061-152264061
TCintronicDe novo--Trost2022 G
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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