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Results for "FAM13C"

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
FAM13C     AU058103chr10:
61316558-61316558
GAintergenicDe novo--Yuen2017 G
FAM13C     12440.p1chr10:
61244989-61244989
AGintergenicDe novo--Werling2018 G
FAM13C     B226003chr10:
61012558-61012558
CTsplicingDe novosplicing22.5-Fu2022 E
FAM13C     AU4273304chr10:
61376055-61376055
GAintergenicDe novo--Yuen2017 G
FAM13C     AU3984301chr10:
61264381-61264381
TCintergenicDe novo--Yuen2017 G
FAM13C     3-0360-000chr10:
61007444-61007444
TAexonicDe novononsynonymous SNVNM_001001971
NM_198215
NM_001143773
NM_001166698
c.A1394T
c.A1688T
c.A1439T
c.A1436T
p.K465M
p.K563M
p.K480M
p.K479M
28.8-Trost2022 G
Zhou2022 GE
FAM13C     2-1646-003chr10:
61278039-61278042
CTTTCTTintergenicDe novo--Yuen2017 G
FAM13C     SJD_58.4chr10:
61072322-61072322
CTintronicDe novo--Trost2022 G
FAM13C     MSSNG00366-003chr10:
61077828-61077828
TCintronicDe novo--Trost2022 G
FAM13C     1-1186-003chr10:
61026627-61026627
CAintronicDe novo--Trost2022 G
FAM13C     3-0829-000chr10:
61056074-61056074
CTintronicDe novo--Trost2022 G
FAM13C     MT_86.3chr10:
61007852-61007852
CTintronicDe novo--Trost2022 G
Trost2022 G
FAM13C     MT_6.3chr10:
61025580-61025580
CTintronicDe novo--Trost2022 G
FAM13C     iHART3290chr10:
61007498-61007498
CGsplicingPaternalsplicing25.0-Ruzzo2019 G
FAM13C     SP0055201chr10:
61120846-61120846
ATUTR5De novo--Trost2022 G
FAM13C     AU3997302chr10:
61129355-61129355
ACintergenicDe novo--Yuen2017 G
FAM13C     SP0040514chr10:
61083878-61083878
ACintronicDe novo--Trost2022 G
FAM13C     MSSNG00253-003chr10:
61089963-61089963
TCintronicDe novo--Trost2022 G
FAM13C     AU4093302chr10:
61007498-61007498
CGsplicingPaternalsplicing25.0-Cirnigliaro2023 G
FAM13C     5-0033-004chr10:
61282129-61282129
CTintergenicDe novo--Yuen2017 G
FAM13C     7-0077-003chr10:
61171660-61171660
CTintergenicDe novo--Yuen2017 G
FAM13C     2-1451-004chr10:
61288613-61288613
GAintergenicDe novo--Yuen2017 G
FAM13C     SP0129966chr10:
61029811-61029811
GAexonicDe novosynonymous SNVNM_001001971
NM_198215
NM_001143773
NM_001166698
c.C651T
c.C651T
c.C402T
c.C402T
p.L217L
p.L217L
p.L134L
p.L134L
--Fu2022 E
Trost2022 G
Zhou2022 GE
FAM13C     1-0119-004chr10:
61192405-61192405
AACTTintergenicDe novo--Yuen2017 G
FAM13C     SP0040514chr10:
61083874-61083874
AGintronicDe novo--Fu2022 E
Trost2022 G
FAM13C     1-0541-004chr10:
61033935-61033935
CTintronicDe novo--Trost2022 G
Yuen2017 G
FAM13C     AU3858303chr10:
61322869-61322869
AGintergenicDe 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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