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Results for "NAGLU"

Variant Events: 16

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
NAGLU     12070_p1chr17:
40696040-40696040		CTexonicDe novosynonymous SNVNM_000263c.C2016Tp.T672T--Fu2022 E
NAGLU     SMHC01887d000chr17:
40688462-40688463		GCGexonicDe novoframeshift deletionNM_000263c.173delCp.A58fs--Yuan2023 E
NAGLU     SP0018069chr17:
40689451-40689451		AGexonicDe novononsynonymous SNVNM_000263c.A419Gp.Y140C25.44.947E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
NAGLU     12070.p1chr17:
40696040-40696040		CTexonicDe novosynonymous SNVNM_000263c.C2016Tp.T672T--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
NAGLU     SP0139933chr17:
40690806-40690806		ACintronicDe novo--Trost2022 G
NAGLU     iHART1401chr17:
40695235-40695235		GAexonicPaternalstopgainNM_000263c.G1211Ap.W404X38.0-Ruzzo2019 G
NAGLU     iHART1403chr17:
40695235-40695235		GAexonicPaternalstopgainNM_000263c.G1211Ap.W404X38.0-Ruzzo2019 G
NAGLU     SP0114384chr17:
40695022-40695022		GCintronicDe novo--Fu2022 E
Trost2022 G
NAGLU     SP0121462chr17:
40696148-40696148		CTexonicDe novosynonymous SNVNM_000263c.C2124Tp.F708F-4.97E-5Fu2022 E
Trost2022 G
Zhou2022 GE
NAGLU     Wang2023:720chr17:
40688462-40688462		GAexonicDe novononsynonymous SNVNM_000263c.G172Ap.A58T6.695-Wang2023 E
NAGLU     AU-16201chr17:
40693137-40693137		GAexonicnonsynonymous SNVNM_000263c.G934Ap.D312N26.0-Doan2019 E
NAGLU     3-0819-000chr17:
40695199-40695199		CTexonicDe novononsynonymous SNVNM_000263c.C1175Tp.T392I3.99-Trost2022 G
Zhou2022 GE
NAGLU     SP0057096chr17:
40695491-40695491		CTexonicDe novosynonymous SNVNM_000263c.C1467Tp.D489D-2.0E-4Trost2022 G
Zhou2022 GE
NAGLU     mAGRE1091chr17:
40696253-40696253		GAexonicMaternalstopgainNM_000263c.G2229Ap.W743X37.01.0E-4Cirnigliaro2023 G
NAGLU     mAGRE1403chr17:
40695235-40695235		GAexonicPaternalstopgainNM_000263c.G1211Ap.W404X38.0-Cirnigliaro2023 G
NAGLU     mAGRE1401chr17:
40695235-40695235		GAexonicPaternalstopgainNM_000263c.G1211Ap.W404X38.0-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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