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Results for "HMBS"

Variant Events: 14

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
HMBS     PN400144chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400100chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400248chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400470chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400361chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400348chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     AU3900301chr11:
118962721-118962721		CTintronicDe novo--Yuen2017 G
HMBS     NP053chr11:
118959478-118959481		CACACintronicDe novo-8.825E-6Satterstrom2020 E
HMBS     PN400396chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400490chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400380chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     PN400517chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
HMBS     DEASD_0182_001chr11:
118959833-118959833		CTexonicDe novononsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C202T
c.C151T
c.C202T
c.C151T		p.L68F
p.L51F
p.L68F
p.L51F		26.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HMBS     PN400369chr11:
118958995-118958995		CTexonicUnknownnonsynonymous SNVNM_000190
NM_001024382
NM_001258208
NM_001258209		c.C64T
c.C13T
c.C64T
c.C13T		p.R22C
p.R5C
p.R22C
p.R5C		33.01.647E-5Leblond2019 E
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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