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Results for "XDH"

Variant Events: 33

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
XDH     SP0070866chr2:
31610711-31610711
GAexonicDe novononsynonymous SNVNM_000379c.C617Tp.P206L22.08.0E-4Trost2022 G
Zhou2022 GE
XDH     1-0339-003chr2:
31747224-31747228
TTCTCTintergenicDe novo--Yuen2017 G
XDH     2-1222-003chr2:
31733371-31733371
AGintergenicDe novo--Yuen2017 G
XDH     2-1718-003chr2:
31695844-31695844
CTintergenicDe novo--Yuen2017 G
XDH     63-343chr2:
31735492-31735492
GTintergenicInherited--Michaelson2012 G
XDH     2-1497-003chr2:
31618871-31618871
GTintronicDe novo--Trost2022 G
Yuen2017 G
XDH     AU4054301chr2:
31692011-31692011
GAintergenicDe novo--Yuen2017 G
XDH     AU4483301chr2:
31643216-31643216
GCintergenicDe novo--Yuen2017 G
XDH     2-1258-004chr2:
31688687-31688687
TCintergenicDe novo--Yuen2017 G
XDH     AU2186301chr2:
31585868-31585868
CTintronicDe novo--Trost2022 G
XDH     MSSNG00348-003chr2:
31569283-31569283
AGintronicDe novo--Trost2022 G
XDH     1-1202-003chr2:
31592504-31592504
CAintronicDe novo--Trost2022 G
XDH     3-0795-000chr2:
31590938-31590938
GAintronicDe novo--Trost2022 G
XDH     11593.p1chr2:
31570393-31570393
CTexonicDe novononsynonymous SNVNM_000379c.G3271Ap.V1091I9.3842.471E-5Krumm2015 E
Zhou2022 GE
XDH     4-0062-003chr2:
31562981-31562982
AGCAintronicDe novo--Trost2022 G
XDH     1-0296-004chr2:
31559668-31559671
CATAACTCCGTCintronicDe novo--Trost2022 G
XDH     1-0381-003chr2:
31658609-31658609
TCintergenicDe novo--Yuen2017 G
XDH     iHART2291chr2:
31572969-31572969
GGCexonicPaternalframeshift insertionNM_000379c.2751dupGp.P918fs--Ruzzo2019 G
XDH     AU4359301chr2:
31609917-31609917
TGintronicDe novo--Trost2022 G
XDH     AU3764302chr2:
31718395-31718395
CTintergenicDe novo--Yuen2017 G
XDH     iHART1739chr2:
31599935-31599935
GAexonicUnknownstopgainNM_000379c.C1411Tp.Q471X17.24-Ruzzo2019 G
XDH     iHART1347chr2:
31588919-31588920
CTCexonicPaternalframeshift deletionNM_000379c.2378delAp.K793fs--Ruzzo2019 G
XDH     2-1220-003chr2:
31582107-31582107
ATintronicDe novo--Yuen2017 G
XDH     MCD-032-4chr2:
31562365-31562365
TAexonicPaternalnonsynonymous SNVNM_000379c.A3764Tp.Y1255F14.872.0E-4Tuncay2023 G
XDH     mAGRE1347chr2:
31588919-31588920
CTCexonicPaternalframeshift deletionNM_000379c.2378delAp.K793fs--Cirnigliaro2023 G
XDH     AU4015303chr2:
31573124-31573124
TGintronicDe novo--Trost2022 G
Yuen2017 G
XDH     mAGRE5300chr2:
31588873-31588875
CCACexonicPaternalframeshift deletionNM_000379c.2423_2424delp.V808fs--Cirnigliaro2023 G
XDH     mAGRE2291chr2:
31572969-31572969
GGCexonicPaternalframeshift insertionNM_000379c.2751dupGp.P918fs--Cirnigliaro2023 G
XDH     mAGRE5368chr2:
31570468-31570468
CAexonicMaternalstopgainNM_000379c.G3196Tp.E1066X41.0-Cirnigliaro2023 G
XDH     1-0513-003chr2:
31647610-31647610
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
XDH     MCD-032-4chr2:
31628791-31628791
CTexonicMaternalnonsynonymous SNVNM_000379c.G82Ap.A28T11.218.254E-6Tuncay2023 G
XDH     SP0022360chr2:
31588528-31588528
TCintronicDe novo--Fu2022 E
XDH     mAGRE1739chr2:
31599935-31599935
GAexonicMaternalstopgainNM_000379c.C1411Tp.Q471X17.24-Cirnigliaro2023 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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