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Results for "DHX34"

Variant Events: 24

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
DHX34     Marques2022:150chr19:
47856844-47856844		ACexonicnonsynonymous SNVNM_014681c.A557Cp.D186A23.78.492E-6Marques2022 ET
DHX34     Marques2022:152chr19:
47858455-47858455		GAexonicnonsynonymous SNVNM_014681c.G865Ap.D289N27.81.0E-4Marques2022 ET
DHX34     Marques2022:151chr19:
47858447-47858447		TCexonicnonsynonymous SNVNM_014681c.T857Cp.L286P20.84.944E-5Marques2022 ET
DHX34     AU2410301chr19:
47893115-47893117		AACAintergenicDe novo--Yuen2017 G
DHX34     Marques2022:158chr19:
47876133-47876133		CTexonicstopgainNM_014681c.C1915Tp.Q639X42.0-Marques2022 ET
DHX34     Marques2022:157chr19:
47865789-47865789		TCexonicnonsynonymous SNVNM_014681c.T1432Cp.F478L18.81-Marques2022 ET
DHX34     Marques2022:160chr19:
47876902-47876902		GAexonicnonsynonymous SNVNM_014681c.G2009Ap.R670Q20.51.0E-4Marques2022 ET
DHX34     Marques2022:159chr19:
47876898-47876898		CTexonicnonsynonymous SNVNM_014681c.C2005Tp.R669C23.71.0E-4Marques2022 ET
DHX34     Marques2022:154chr19:
47858494-47858494		CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     7-0223-003chr19:
47893115-47893117		AACAintergenicDe novo--Yuen2017 G
DHX34     Marques2022:153chr19:
47858494-47858494		CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     Marques2022:156chr19:
47865787-47865787		AGexonicnonsynonymous SNVNM_014681c.A1430Gp.E477G32.0-Marques2022 ET
DHX34     Marques2022:155chr19:
47865756-47865756		GTexonicnonsynonymous SNVNM_014681c.G1399Tp.D467Y27.70.0018Marques2022 ET
DHX34     2-1788-003chr19:
47867797-47867797		GAintronicDe novo--Trost2022 G
DHX34     Marques2022:166chr19:
47884091-47884091		CTexonicnonsynonymous SNVNM_014681c.C3001Tp.R1001W12.756.602E-5Marques2022 ET
DHX34     Marques2022:165chr19:
47883030-47883030		GTexonicnonsynonymous SNVNM_014681c.G2770Tp.G924C19.144.0E-4Marques2022 ET
DHX34     A29chr19:
47858265-47858265		CTintronicDe novo--Wu2018 G
DHX34     7-0326-003chr19:
47856666-47856666		GAexonicDe novononsynonymous SNVNM_014681c.G379Ap.A127T3.1468.273E-5Trost2022 G
Zhou2022 GE
DHX34     Marques2022:162chr19:
47879329-47879329		AGexonicnonsynonymous SNVNM_014681c.A2456Gp.N819S18.188.812E-5Marques2022 ET
DHX34     Marques2022:161chr19:
47879292-47879292		GAexonicnonsynonymous SNVNM_014681c.G2419Ap.G807S35.00.0032Marques2022 ET
DHX34     AU3635301chr19:
47893115-47893117		AACAintergenicDe novo--Yuen2017 G
DHX34     Marques2022:164chr19:
47880464-47880464		GAsplicingsplicing21.1-Marques2022 ET
DHX34     AU4029302chr19:
47893115-47893117		AACAintergenicDe novo--Yuen2017 G
DHX34     Marques2022:163chr19:
47879766-47879766		GAexonicnonsynonymous SNVNM_014681c.G2548Ap.E850K19.940.0023Marques2022 ET
Source Variant Information

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Source:

Paper alias:

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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
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