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Results for "SPRED1"

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
SPRED1     2-1709-003chr15:
38715996-38715998
ATTATintergenicDe novo--Yuen2017 G
SPRED1     2-1176-003chr15:
38718499-38718499
AGintergenicDe novo--Yuen2017 G
SPRED1     2-1402-003chr15:
38566170-38566170
CAintronicDe novo--Yuen2017 G
SPRED1     2-1086-003chr15:
38683271-38683271
ACintergenicDe novo--Yuen2017 G
SPRED1     Mahjani2021:90chr15:
38614612-38614612
TCsplicingsplicing23.5-Mahjani2021 E
SPRED1     AU4314302chr15:
38584863-38584863
GAintronicDe novo--Yuen2017 G
SPRED1     AU4237304chr15:
38546891-38546891
TCintronicDe novo--Yuen2017 G
SPRED1     1-0417-003chr15:
38639073-38639073
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SPRED1     1-0552-003chr15:
38681785-38681785
CTintergenicDe 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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