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Results for "DHCR24"

Variant Events: 15

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
DHCR24     DEASD_0414_001chr1:
55341574-55341574
GCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DHCR24     1-0498-003chr1:
55365132-55365132
AGintergenicDe novo--Yuen2017 G
DHCR24     PN400301chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     PN400190chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     PN400416chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     2-1359-003chr1:
55428292-55428292
CTintergenicDe novo--Yuen2017 G
DHCR24     12198.p1chr1:
55337173-55337173
GCexonicDe novononsynonymous SNVNM_014762c.C726Gp.F242L12.88-Ji2016 E
Krumm2015 E
DHCR24     AU2525302chr1:
55315183-55315183
CTdownstreamDe novo--Yuen2017 G
DHCR24     PN400480chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     PN400582chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     PN400194chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     2-1737-003chr1:
55385575-55385575
TCintergenicDe novo--Yuen2017 G
DHCR24     PN400195chr1:
55337283-55337283
CTexonicUnknownnonsynonymous SNVNM_014762c.G616Ap.E206K25.15.0E-4Leblond2019 E
DHCR24     2-0144-004chr1:
55369022-55369022
GGGTTintergenicDe novo--Yuen2017 G
DHCR24     2-0122-003chr1:
55420790-55420790
CAintergenicDe 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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