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Results for "SFSWAP"

Variant Events: 27

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
SFSWAP     REACH000735chr12:
132239957-132239957
AGexonicDe novononsynonymous SNVNM_001261411
NM_004592
c.A1481G
c.A1481G
p.Q494R
p.Q494R
18.41-Trost2022 G
Zhou2022 GE
SFSWAP     AU045010chr12:
132196983-132196983
TGintronicDe novo--Trost2022 G
Yuen2017 G
SFSWAP     2-1382-003chr12:
132272190-132272190
ATintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SFSWAP     2-0198-005chr12:
132288757-132288757
CTintergenicDe novo--Yuen2017 G
SFSWAP     AU3866301chr12:
132200568-132200568
AGintronicDe novo--Trost2022 G
Yuen2017 G
SFSWAP     2-1318-004chr12:
132286271-132286271
CCTGintergenicDe novo--Yuen2017 G
SFSWAP     AU2787302chr12:
132292449-132292449
CGintergenicDe novo--Yuen2017 G
SFSWAP     2-0198-004chr12:
132288757-132288757
CTintergenicDe novo--Yuen2017 G
SFSWAP     1-1000-003chr12:
132279842-132279842
GAintronicDe novo--Yuen2017 G
SFSWAP     AU3057301chr12:
132196288-132196288
GCintronicDe novo--Trost2022 G
Yuen2017 G
SFSWAP     2-1729-003chr12:
132298508-132298508
GAintergenicDe novo--Yuen2017 G
SFSWAP     4-0077-003chr12:
132266325-132266327
TACCTTintronicDe novo--Trost2022 G
SFSWAP     11653.p1chr12:
132288010-132288010
TTAGACintergenicUnknown--Werling2018 G
SFSWAP     4-0062-003chr12:
132266325-132266327
TACCTTintronicDe novo--Trost2022 G
SFSWAP     2-1510-003chr12:
132276813-132276817
CATATCATintronicDe novo--Yuen2017 G
SFSWAP     AU2303301chr12:
132257149-132257149
GAintronicDe novo--Trost2022 G
SFSWAP     2-1416-004chr12:
132286261-132286261
CTintergenicDe novo--Yuen2017 G
SFSWAP     MSSNG00111-004chr12:
132260308-132260308
AGintronicDe novo--Trost2022 G
SFSWAP     2-0162-003chr12:
132221626-132221626
AGintronicDe novo--Trost2022 G
SFSWAP     7-0330-003chr12:
132253545-132253545
GAintronicDe novo--Trost2022 G
SFSWAP     13515.p1chr12:
132198154-132198154
CTintronicDe novo--Turner2016 G
SFSWAP     1-1000-003Achr12:
132279842-132279842
GAintronicDe novo--Trost2022 G
SFSWAP     1-0286-004chr12:
132281020-132281020
CAGCAintronicDe novo--Trost2022 G
SFSWAP     80001100208chr12:
132281866-132281866
CGexonicDe novononsynonymous SNVNM_004592
NM_001261411
c.C2678G
c.C2834G
p.S893C
p.S945C
18.66-Fu2022 E
Lim2017 E
SFSWAP     4-0073-003chr12:
132266325-132266327
TACCTTintronicDe novo--Trost2022 G
SFSWAP     SSC09492chr12:
132195858-132195858
TGexonicDe novosynonymous SNVNM_001261411
NM_004592
c.T84G
c.T84G
p.G28G
p.G28G
-2.0E-4Lim2017 E
SFSWAP     REACH000426chr12:
132276451-132276451
AGintronicDe novo--Trost2022 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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