or
or
Exact

Results for "ELF1"

Variant Events: 19

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
ELF1     2-1505-004chr15:
82461757-82461757
TGintronicDe novo--Yuen2017 G
ELF1     1-0383-003chr15:
82531006-82531006
TCintronicDe novo--Yuen2017 G
ELF1     5-0045-003chr13:
41550948-41550948
TCintronicDe novo--Yuen2017 G
ELF1     SP0013743chr15:
82554031-82554031
TCexonicDe novononsynonymous SNVNM_001040610
NM_024580
c.A89G
c.A89G
p.H30R
p.H30R
15.361.658E-5Fu2022 E
ELF1     2-1562-003chr13:
41523531-41523531
TCintronicDe novo--Yuen2017 G
ELF1     SP0095787chr15:
82431130-82431130
TCexonicDe novononsynonymous SNVNM_001040610
NM_024580
c.A2890G
c.A3043G
p.M964V
p.M1015V
25.2-Fu2022 E
ELF1     AU3727303chr15:
82496599-82496599
CTintronicDe novo--Yuen2017 G
ELF1     1-0998-003chr15:
82476552-82476552
ATintronicDe novo--Yuen2017 G
ELF1     iHART1964chr13:
41515415-41515415
TTTAexonicMaternalstopgainNM_001145353
NM_172373
c.825_826insTA
c.897_898insTA
p.N276_D277delinsX
p.N300_D301delinsX
-8.25E-6Ruzzo2019 G
ELF1     2-1163-003chr15:
82544132-82544132
TGintronicDe novo--Yuen2016 G
Yuen2017 G
ELF1     iHART1998chr13:
41518049-41518049
TGexonicDe novononsynonymous SNVNM_001145353
NM_172373
c.A470C
c.A542C
p.K157T
p.K181T
19.22-Ruzzo2019 G
ELF1     2-1329-003chr13:
41628892-41628892
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ELF1     AU4186302chr15:
82493383-82493388
ATTTTTATTTTTTintronicDe novo--Yuen2017 G
ELF1     1-0304-003chr15:
82469071-82469071
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ELF1     2-1442-003chr15:
82493794-82493794
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ELF1     156-3925chr13:
41517148-41517148
AGexonicInheritednonsynonymous SNVNM_001145353
NM_172373
c.T674C
c.T746C
p.L225S
p.L249S
21.1-Patowary2019 E
ELF1     1-0153-005chr13:
41561856-41561856
CTintronicDe novo--Yuen2017 G
ELF1     1-0906-003chr15:
82459555-82459555
TCintronicDe novo--Yuen2017 G
ELF1     1-0385-003chr13:
41520915-41520915
TCintronicDe novo--Yuen2017 G
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