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Results for "AASDH"

Variant Events: 6

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
AASDH     13323.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001286668
NM_001286671
NM_001286672
NM_181806
NM_001286668
NM_001286671
NM_001286672
NM_181806
c.41dupA
c.341dupA
c.341dupA
c.341dupA
c.42dupA
c.342dupA
c.342dupA
c.342dupA
p.K14fs
p.K114fs
p.K114fs
p.K114fs
p.Q15fs
p.Q115fs
p.Q115fs
p.Q115fs
-3.0E-4Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
AASDH     AU2569303chr4:
57255241-57255243
AGGAGintergenicDe novo--Yuen2017 G
AASDH     G01-GEA-148-HIchr4:
57244382-57244382
CTexonicDe novosynonymous SNVNM_001286668
NM_001286669
NM_001286671
NM_001286672
NM_181806
c.G300A
c.G141A
c.G600A
c.G600A
c.G600A
p.G100G
p.G47G
p.G200G
p.G200G
p.G200G
-4.944E-5Satterstrom2020 E
AASDH     iHART2473chr4:
57204775-57204775
GGTAGTexonicPaternalstopgainNM_001286670
NM_001286668
NM_001286669
NM_181806
c.1634_1635insACTA
c.2789_2790insACTA
c.2630_2631insACTA
c.3089_3090insACTA
p.Y545_N546delinsX
p.Y930_N931delinsX
p.Y877_N878delinsX
p.Y1030_N1031delinsX
-2.472E-5Ruzzo2019 G
AASDH     A47chr4:
57221513-57221513
CAexonicDe novononsynonymous SNVNM_001286668
NM_001286669
NM_001286671
NM_001286672
NM_181806
c.G638T
c.G479T
c.G938T
c.G938T
c.G938T
p.R213L
p.R160L
p.R313L
p.R313L
p.R313L
21.6-Jiao2019 E
AASDH     1-0570-003chr4:
57211984-57211984
GAintronicDe novo--Yuen2017 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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