or
or
Exact

Results for "FAT1"

Variant Events: 45

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
FAT1     AU045514chr4:
187567287-187567287
GAintronicDe novo--Yuen2017 G
FAT1     2-1508-004chr4:
187718361-187718361
GCintergenicDe novo--Yuen2017 G
FAT1     Cukier2014:17545chr4:
187549364-187549364
GAexonicUnknownnonsynonymous SNVNM_005245c.C4754Tp.T1585M15.860.0066Cukier2014 E
FAT1     Cukier2014:17545chr4:
187557908-187557908
CTexonicUnknownnonsynonymous SNVNM_005245c.G3803Ap.R1268Q9.8110.0065Cukier2014 E
FAT1     2-1350-004chr4:
187865565-187865565
GTintergenicDe novo--Yuen2017 G
FAT1     11189.p1chr4:
187549328-187549328
ATexonicDe novononsynonymous SNVNM_005245c.T4790Ap.V1597E26.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
FAT1     1-0389-004chr4:
188198114-188198114
AACCAGTTGCTintergenicDe novo--Yuen2017 G
FAT1     2-1329-003chr4:
187672767-187672767
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
FAT1     2-1254-003chr4:
187804804-187804804
TCintergenicDe novo--Yuen2016 G
FAT1     PN400371chr4:
187524743-187524743
CTexonicUnknownnonsynonymous SNVNM_005245c.G10937Ap.R3646H27.59.94E-5Leblond2019 E
FAT1     3G089chr4:
187524861-187524861
TCexonicDe novononsynonymous SNVNM_005245c.A10819Gp.I3607V4.749-Satterstrom2020 E
FAT1     AU074403chr4:
188092506-188092506
AGintergenicDe novo--Yuen2017 G
FAT1     AU3716302chr4:
188094677-188094677
TCintergenicDe novo--Yuen2017 G
FAT1     AU2863303chr4:
188165717-188165724
GTTTTTTTGTTTTTTintergenicDe novo--Yuen2017 G
FAT1     11254.p1chr4:
187530305-187530305
GCintronicDe novo--Satterstrom2020 E
FAT1     14165.p1chr4:
187629244-187629244
TGexonicMosaic Pat.synonymous SNVNM_005245c.A1738Cp.R580R--Dou2017 E
FAT1     AU4223302chr4:
187650527-187650527
CTintergenicDe novo--Yuen2017 G
FAT1     1-0553-003chr4:
188001240-188001240
ACintergenicDe novo--Yuen2017 G
FAT1     2-1562-003chr4:
187604279-187604279
TAintronicDe novo--Yuen2017 G
FAT1     Lim2017:35842chr4:
187549328-187549328
ATexonicDe novononsynonymous SNVNM_005245c.T4790Ap.V1597E26.1-Lim2017 E
FAT1     PN400499chr4:
187549725-187549725
GAexonicUnknownnonsynonymous SNVNM_005245c.C4516Tp.R1506C18.93.0E-4Leblond2019 E
FAT1     07C70281chr4:
187538324-187538324
TGexonicDe novononsynonymous SNVNM_005245c.A8910Cp.E2970D9.697-Neale2012 E
FAT1     2-1730-003chr4:
188222391-188222395
GCCCCGCCCintergenicDe novo--Yuen2017 G
FAT1     MR_755_Bchr4:
187518791-187518791
CTintronicDe novo-5.458E-5Satterstrom2020 E
FAT1     1-0273-004chr4:
187731410-187731410
TCintergenicDe novo--Yuen2017 G
FAT1     5-0095-003chr4:
188019246-188019246
GAintergenicDe novo--Yuen2017 G
FAT1     2-1460-003chr4:
187959157-187959157
GAintergenicDe novo--Yuen2017 G
FAT1     09C98909chr4:
187524608-187524608
TCexonicDe novononsynonymous SNVNM_005245c.A11072Gp.H3691R10.87-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
FAT1     1360JS0006chr4:
187538324-187538324
TGexonicDe novononsynonymous SNVNM_005245c.A8910Cp.E2970D9.697-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FAT1     3C563chr4:
187557396-187557396
CAintronicDe novo--Satterstrom2020 E
FAT1     1-0330-003chr4:
187777630-187777630
TCintergenicDe novo--Yuen2017 G
FAT1     1-0763-003chr4:
187656579-187656579
GTintergenicDe novo--Yuen2017 G
FAT1     2-0307-003chr4:
188046773-188046773
TCintergenicDe novo--Yuen2017 G
FAT1     A20chr4:
187813080-187813080
CTintergenicDe novo--Wu2018 G
FAT1     AU4235303chr4:
187968277-187968277
GAintergenicDe novo--Yuen2017 G
FAT1     SP0006235chr4:
187519280-187519280
CTsplicingDe novosplicing16.95-Feliciano2019 E
FAT1     2-1131-003chr4:
188078133-188078133
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
FAT1     2-1430-003chr4:
188165177-188165177
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
FAT1     AU3885305chr4:
187934684-187934684
CTintergenicDe novo--Yuen2017 G
FAT1     AU4145301chr4:
187578669-187578669
GCintronicDe novo--Yuen2017 G
FAT1     1-0460-003chr4:
188101168-188101168
GAintergenicDe novo--Yuen2017 G
FAT1     2-1382-003chr4:
187874081-187874081
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
FAT1     AU3712301chr4:
188121499-188121499
CTintergenicDe novo--Yuen2017 G
FAT1     Cukier2014:37037chr4:
187518041-187518041
TCexonicUnknownnonsynonymous SNVNM_005245c.A12653Gp.D4218G14.120.0107Cukier2014 E
FAT1     1-0044-003chr4:
187728815-187728815
TCintergenicDe 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