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Results for "ACSF2"

Variant Events: 16

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
ACSF2     12529.p1chr17:
48513781-48513781
CTintronicDe novo--Turner2016 G
ACSF2     12529.p1chr17:
48513769-48513769
CTintronicDe novo--Turner2016 G
ACSF2     AU2569303chr17:
48538192-48538194
CATCexonicPaternalframeshift deletionNM_001288969
NM_001288970
NM_025149
NM_001288968
c.284_285del
c.284_285del
c.284_285del
c.359_360del
p.H95fs
p.H95fs
p.H95fs
p.H120fs
--Cirnigliaro2023 G
ACSF2     5-1008-003chr17:
48550411-48550412
GTGintronicDe novo--Trost2022 G
ACSF2     mAGRE2334chr17:
48538036-48538036
AGsplicingMaternalsplicing25.82.0E-4Cirnigliaro2023 G
ACSF2     SP0147920chr17:
48551182-48551182
TGintronicDe novo--Trost2022 G
ACSF2     2-1290-004chr17:
48513000-48513003
TGTGAintronicDe novo--Trost2022 G
ACSF2     REACH000364chr17:
48517154-48517154
TCintronicDe novo--Trost2022 G
ACSF2     7-0416-003chr17:
48512522-48512522
TCintronicDe novo--Trost2022 G
ACSF2     SP0001063chr17:
48541163-48541163
ATintronicDe novo--Fu2022 E
Trost2022 G
Trost2022 G
ACSF2     08C74198chr17:
48504306-48504306
GAexonicDe novononsynonymous SNVNM_001288968c.G169Ap.V57I6.829-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ACSF2     G01_GEA540HIchr17:
48552032-48552032
ACUTR3De novo--Fu2022 E
ACSF2     AU2417301chr17:
48504306-48504306
GAexonicnonsynonymous SNVNM_001288968c.G169Ap.V57I6.829-Zhou2022 GE
ACSF2     JASD_Fam0039chr17:
48539642-48539642
CTexonicDe novononsynonymous SNVNM_001288971
NM_001288970
NM_001288969
NM_001288972
NM_025149
NM_001288968
c.C125T
c.C476T
c.C566T
c.C125T
c.C605T
c.C680T
p.P42L
p.P159L
p.P189L
p.P42L
p.P202L
p.P227L
25.7-Takata2018 E
ACSF2     2-1329-003chr17:
48537359-48537359
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ACSF2     SP0020550chr17:
48551437-48551437
AGintronicDe novo--Fu2022 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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