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Results for "TM4SF20"

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
TM4SF20     Krgovic2022:040110chr2:
228235698-228235698
TAsplicingUnknownsplicing11.932.471E-5Krgovic2022 E
TM4SF20     mAGRE4987chr2:
228243833-228243833
CTexonicMaternalstopgainNM_024795c.G152Ap.W51X25.83.3E-5Cirnigliaro2023 G
TM4SF20     mAGRE4986chr2:
228243833-228243833
CTexonicMaternalstopgainNM_024795c.G152Ap.W51X25.83.3E-5Cirnigliaro2023 G
TM4SF20     14015.p1chr2:
228332589-228332589
GTintergenicDe novo--Turner2016 G
TM4SF20     AU4122301chr2:
228231481-228231481
GTintronicDe novo--Trost2022 G
TM4SF20     REACH000233chr2:
228238672-228238672
GAintronicDe novo--Trost2022 G
TM4SF20     AU4234302chr2:
228240484-228240484
CTintronicDe novo--Trost2022 G
Yuen2017 G
TM4SF20     AU075703chr2:
228290566-228290566
CTintergenicDe novo--Yuen2017 G
TM4SF20     SP0103498chr2:
228228598-228228598
CTexonicDe novononsynonymous SNVNM_024795c.G532Ap.D178N0.656-Fu2022 E
Trost2022 G
Zhou2022 GE
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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