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Results for "SCRT2"

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
SCRT2     iHART1714chr20:
644328-644338
CCGGCGGGGGTCexonicPaternalframeshift deletionNM_033129c.901_910delp.T301fs-2.0E-4Ruzzo2019 G
SCRT2     iHART1713chr20:
644328-644338
CCGGCGGGGGTCexonicPaternalframeshift deletionNM_033129c.901_910delp.T301fs-2.0E-4Ruzzo2019 G
SCRT2     5-0128-003chr20:
697556-697556
CAintergenicDe novo--Yuen2017 G
SCRT2     1-0460-003chr20:
699779-699779
ATintergenicDe novo--Yuen2017 G
SCRT2     SSC10495chr20:
656176-656176
TGexonicDe novononsynonymous SNVNM_033129c.A70Cp.T24P14.72-Fu2022 E
SCRT2     2-0242-004chr20:
693218-693218
TCintergenicDe novo--Yuen2017 G
SCRT2     SMHC01090s000chr20:
644800-644809
CCCCCGCGCGCexonicDe novononframeshift deletionNM_033129c.430_438delp.144_146del-9.0E-4Yuan2023 E
SCRT2     mAGRE1714chr20:
644328-644338
CCGGCGGGGGTCexonicPaternalframeshift deletionNM_033129c.901_910delp.T301fs-2.0E-4Cirnigliaro2023 G
SCRT2     mAGRE1713chr20:
644328-644338
CCGGCGGGGGTCexonicPaternalframeshift deletionNM_033129c.901_910delp.T301fs-2.0E-4Cirnigliaro2023 G
SCRT2     MSSNG00358-004chr20:
652526-652526
GAintronicDe novo--Trost2022 G
SCRT2     7-0344-003chr20:
642842-642842
AGUTR3De novo--Trost2022 G
SCRT2     7-0412-003chr20:
642045-642045
TGdownstreamDe novo--Trost2022 G
SCRT2     1-0518-003chr20:
652238-652238
CTintronicDe novo--Yuen2017 G
SCRT2     1-0563-004chr20:
737499-737499
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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