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Results for "DHX30"

Variant Events: 11

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
DHX30     mAGRE1191chr3:
47890041-47890041
GGTsplicingMaternalsplicing-8.238E-5Cirnigliaro2023 G
DHX30     Mahjani2021:1chr3:
47890169-47890169
CGexonicnonsynonymous SNVNM_138615
NM_014966
c.C2631G
c.C2514G
p.I877M
p.I838M
12.54-Mahjani2021 E
DHX30     iHART1191chr3:
47890041-47890041
GGTsplicingMaternalsplicing-8.238E-5Ruzzo2019 G
DHX30     2-0019-004chr3:
47849369-47849369
GGCCAintronicDe novo--Trost2022 G
Yuen2017 G
DHX30     SP0144032chr3:
47887958-47887958
CTexonicDe novononsynonymous SNVNM_138615
NM_014966
c.C1396T
c.C1279T
p.R466C
p.R427C
19.43-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
DHX30     SP0131113chr3:
47860713-47860713
GCintronicDe novo--Fu2022 E
Trost2022 G
DHX30     G012138chr3:
47888247-47888247
AGexonicnonsynonymous SNVNM_138615
NM_014966
c.A1685G
c.A1568G
p.H562R
p.H523R
20.5-Sanchis-Juan2023 G
DHX30     5-5149-003chr3:
47876979-47876979
CGintronicDe novo--Trost2022 G
DHX30     7-0248-003chr3:
47880151-47880151
CGintronicDe novo--Trost2022 G
Yuen2017 G
DHX30     5-5149-003chr3:
47876949-47876949
TCintronicDe novo--Trost2022 G
DHX30     AU2224301chr3:
47876949-47876949
TCintronicDe 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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