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Results for "SELP"

Variant Events: 9

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
SELP     12680.p1chr1:
169626192-169626192
GAintergenicDe novo--Turner2016 G
SELP     AU024608chr1:
169579550-169579550
GAintronicDe novo--Yuen2017 G
SELP     AU3368302chr1:
169630719-169630719
CGintergenicDe novo--Yuen2017 G
SELP     iHART1713chr1:
169580892-169580892
CCTTexonicMaternalframeshift insertionNM_003005c.984_985insAAp.A329fs-4.0E-4Ruzzo2019 G
SELP     JASD_Fam0020chr1:
169576253-169576253
CGexonicDe novononsynonymous SNVNM_003005c.G1453Cp.V485L9.269-Takata2018 E
SELP     iHART1710chr1:
169580892-169580892
CCTTexonicMaternalframeshift insertionNM_003005c.984_985insAAp.A329fs-4.0E-4Ruzzo2019 G
SELP     2-1475-003chr1:
169589281-169589281
GAintronicDe novo--Yuen2017 G
SELP     AU4237302chr1:
169593656-169593656
GCintronicDe novo--Yuen2017 G
SELP     AU038204chr1:
169623286-169623286
GTintergenicDe 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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