or
or
Exact

Results for "FGGY"

Variant Events: 49

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
FGGY     11216.p1chr1:
59787330-59787330
GTexonicDe novononsynonymous SNVNM_001113411
NM_001244714
NM_018291
c.G109T
c.G109T
c.G109T
p.A37S
p.A37S
p.A37S
22.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
FGGY     5-0095-003chr1:
59838057-59838057
ACintronicDe novo--Yuen2017 G
FGGY     mAGRE4851chr1:
59805663-59805663
CTexonicPaternalstopgainNM_001113411
NM_018291
c.C235T
c.C235T
p.R79X
p.R79X
36.01.796E-5Cirnigliaro2023 G
FGGY     12493.p1chr1:
59763759-59763759
TGintronicDe novo--Turner2016 G
FGGY     12795.p1chr1:
59892531-59892531
ACintronicDe novo--Turner2016 G
FGGY     mAGRE1168chr1:
59811957-59811957
CTexonicMaternalstopgainNM_001113411
NM_018291
c.C352T
c.C352T
p.R118X
p.R118X
17.932.476E-5Cirnigliaro2023 G
FGGY     SSC02627chr1:
59787330-59787330
GTexonicDe novononsynonymous SNVNM_001113411
NM_001244714
NM_018291
c.G109T
c.G109T
c.G109T
p.A37S
p.A37S
p.A37S
22.6-Fu2022 E
Trost2022 G
FGGY     1-0627-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
FGGY     AU4284301chr1:
59785837-59785837
AGintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     A22chr1:
59763665-59763665
AGintronicDe novo--Wu2018 G
FGGY     AU3913302chr1:
59875627-59875627
GAintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     5-5233-003chr1:
59842147-59842147
AGintronicDe novo--Trost2022 G
FGGY     AU2817301chr1:
59838186-59838186
AGintronicDe novo--Trost2022 G
FGGY     REACH000423chr1:
59874592-59874592
GCintronicDe novo--Trost2022 G
FGGY     REACH000387chr1:
59853785-59853785
GAintronicDe novo--Trost2022 G
FGGY     1-0226-005chr1:
59777639-59777639
GAintronicDe novo--Trost2022 G
FGGY     7-0342-005chr1:
59776515-59776515
CTintronicDe novo--Trost2022 G
FGGY     3-0668-000chr1:
59831044-59831044
CTintronicDe novo--Trost2022 G
FGGY     MSSNG00435-003chr1:
59826566-59826566
TCintronicDe novo--Trost2022 G
FGGY     5-5012-003chr1:
60007803-60007803
GCintronicDe novo--Trost2022 G
FGGY     MT_59.3chr1:
60003694-60003694
CGintronicDe novo--Trost2022 G
FGGY     7-0143-004chr1:
60049886-60049886
ACintronicDe novo--Trost2022 G
FGGY     2-0305-003chr1:
59888413-59888413
AGintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     2-1526-004chr1:
59844483-59844483
GTexonicDe novosynonymous SNVNM_001244714
NM_001113411
NM_018291
c.G264T
c.G528T
c.G528T
p.S88S
p.S176S
p.S176S
--Trost2022 G
Yuen2017 G
Zhou2022 GE
FGGY     2-1723-003chr1:
60035950-60035952
ATTTCCintronicDe novo--Trost2022 G
FGGY     2-1441-003chr1:
59916809-59916809
ATintronicDe novo--Trost2022 G
FGGY     4-0062-003chr1:
59878158-59878159
TCGTintronicDe novo--Trost2022 G
FGGY     1014chr1:
59989717-59989717
CTintronicDe novo--Trost2022 G
FGGY     REACH000292chr1:
59955163-59955163
AGintronicDe novo--Trost2022 G
FGGY     7-0227-003chr1:
60148815-60148815
CGintronicDe novo--Trost2022 G
FGGY     MSSNG00363-003chr1:
60122676-60122676
AGintronicDe novo--Trost2022 G
FGGY     MT_73.3chr1:
60174435-60174435
CTintronicDe novo--Trost2022 G
FGGY     4-0062-003chr1:
60152780-60152780
ATintronicDe novo--Trost2022 G
FGGY     1-0672-003chr1:
60061000-60061000
ATintronicDe novo--Trost2022 G
FGGY     14-613chr1:
60055512-60055512
GTintronicDe novo--Trost2022 G
FGGY     4-0075-003chr1:
60086448-60086454
AATACCCGintronicDe novo--Trost2022 G
FGGY     1-0672-003chr1:
60062768-60062768
TGintronicDe novo--Trost2022 G
FGGY     A29chr1:
59936527-59936527
TCintronicDe novo--Wu2018 G
FGGY     3-0711-000Achr1:
60223806-60223806
GAintronicDe novo--Trost2022 G
FGGY     3-0842-000chr1:
60220014-60220014
GTintronicDe novo--Trost2022 G
FGGY     3-0460-000chr1:
60226351-60226351
ACintronicDe novo--Trost2022 G
FGGY     AU3517302chr1:
60136524-60136524
TGintronicDe novo--Yuen2017 G
FGGY     iHART1168chr1:
59811957-59811957
CTexonicMaternalstopgainNM_001113411
NM_018291
c.C352T
c.C352T
p.R118X
p.R118X
17.932.476E-5Ruzzo2019 G
FGGY     11387.p1chr1:
60106970-60106970
TGexonicMosaicnonsynonymous SNVNM_001113411c.T1240Gp.Y414D2.888-Krupp2017 E
FGGY     1-0439-003chr1:
59796731-59796731
TGintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     1-0590-003chr1:
59837334-59837334
GAintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     1-0448-003chr1:
59981190-59981190
CTintronicDe novo--Trost2022 G
Yuen2017 G
FGGY     2-1163-003chr1:
59797882-59797882
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FGGY     2-1166-003chr1:
60081949-60081949
CTintronicDe 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