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Results for "DDAH1"

Variant Events: 25

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
DDAH1     REACH000650chr1:
85930644-85930644
CGexonicDe novononsynonymous SNVNM_012137c.G85Cp.A29P17.82-Antaki2022 GE
Trost2022 G
Zhou2022 GE
DDAH1     SP0012384chr1:
85930644-85930644
CGexonicDe novononsynonymous SNVNM_012137c.G85Cp.A29P17.82-Antaki2022 GE
Fu2022 E
Zhou2022 GE
DDAH1     1-0556-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DDAH1     1-0338-005chr1:
85969568-85969568
CTintronicDe novo--Trost2022 G
Yuen2017 G
DDAH1     1-0736-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DDAH1     14242.p1chr1:
85930706-85930706
GAexonicnonsynonymous SNVNM_012137c.C23Tp.A8V15.29-Zhou2022 GE
DDAH1     2-1207-003chr1:
86003361-86003361
CGintronicDe novo--Yuen2016 G
Yuen2017 G
DDAH1     3-0244-000chr1:
85831594-85831594
TCintronicDe novo--Trost2022 G
DDAH1     3-0368-000chr1:
85830084-85830084
AGintronicDe novo--Trost2022 G
DDAH1     5-0116-003chr1:
85833269-85833269
TCintronicDe novo--Trost2022 G
Yuen2017 G
DDAH1     7-0351-004chr1:
85899641-85899641
TCintronicDe novo--Trost2022 G
DDAH1     AU023012chr1:
85879719-85879719
GCintronicDe novo--Trost2022 G
DDAH1     AU072504chr1:
85918079-85918079
AGintronicDe novo--Trost2022 G
Yuen2017 G
DDAH1     7-0354-005chr1:
85828107-85828107
CGintronicDe novo--Trost2022 G
DDAH1     AU2186301chr1:
85797644-85797644
GAintronicDe novo--Trost2022 G
DDAH1     1-0969-003chr1:
85999284-85999284
TCintronicDe novo--Trost2022 G
DDAH1     7-0023-003chr1:
85891712-85891712
GCintronicDe novo--Trost2022 G
Yuen2017 G
DDAH1     1-1054-003chr1:
85963393-85963393
CTintronicDe novo--Trost2022 G
DDAH1     1018chr1:
86035283-86035283
CTintronicDe novo--Trost2022 G
DDAH1     5-5177-003chr1:
86020562-86020562
GTintronicDe novo--Trost2022 G
DDAH1     1-0903-004chr1:
85906805-85906805
TCintronicDe novo--Trost2022 G
DDAH1     11572.p1chr1:
85983476-85983476
GTintronicDe novo--Turner2016 G
DDAH1     1-0671-003chr1:
85901655-85901655
GTintronicDe novo--Trost2022 G
DDAH1     2-1410-003chr1:
85925707-85925707
GCintronicDe novo--Trost2022 G
DDAH1     5-0001-003chr1:
85919772-85919772
GAintronicDe novo--Trost2022 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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