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Results for "SIPA1L3"

Variant Events: 23

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
SIPA1L3     MT_28chr19:
38610142-38610142
GAexonicPaternalnonsynonymous SNVNM_015073c.G2488Ap.E830K35.04.947E-5Toma2013 E
SIPA1L3     AU4032306chr19:
38538528-38538528
GAintronicDe novo--Yuen2017 G
SIPA1L3     1-0489-003chr19:
38590877-38590883
CTTTTTTCTTTTTTTintronicDe novo--Yuen2017 G
SIPA1L3     2-0273-003chr19:
38573759-38573759
TGintronicDe novo-8.06E-5Yuen2017 G
SIPA1L3     A8chr19:
38522528-38522528
TGintronicDe novo--Wu2018 G
SIPA1L3     2-0018-004chr19:
38670046-38670046
CAintronicDe novo--Yuen2017 G
SIPA1L3     SP0038010chr19:
38572474-38572474
GAexonicDe novononsynonymous SNVNM_015073c.G269Ap.R90Q22.02.541E-5Fu2022 E
SIPA1L3     AU1355301chr19:
38475729-38475729
AGintronicDe novo--Yuen2017 G
SIPA1L3     5981007471794-Cchr19:
38591881-38591881
GAintronicDe novo--Fu2022 E
SIPA1L3     SP0100503chr19:
38610166-38610166
AGexonicDe novononsynonymous SNVNM_015073c.A2512Gp.I838V8.511-Fu2022 E
SIPA1L3     AC02-1184-01chr19:
38682742-38682742
GTintronicDe novo-0.0033Kosmicki2017 E
Satterstrom2020 E
SIPA1L3     AU047904chr19:
38651942-38651942
CTintronicDe novo--Yuen2017 G
SIPA1L3     3G089chr19:
38597196-38597196
CGexonicDe novononsynonymous SNVNM_015073c.C2049Gp.H683Q13.02-Fu2022 E
Satterstrom2020 E
SIPA1L3     1-0912-003chr19:
38450392-38450392
GAintronicDe novo--Yuen2017 G
SIPA1L3     AU3761302chr19:
38545145-38545145
CTintronicDe novo--Yuen2017 G
SIPA1L3     234-05-103244chr19:
38572752-38572752
GTexonicDe novononsynonymous SNVNM_015073c.G547Tp.D183Y13.8-Fu2022 E
Satterstrom2020 E
SIPA1L3     2-1325-003chr19:
38555355-38555355
ACintronicDe novo--Yuen2016 G
Yuen2017 G
SIPA1L3     1-0403-004chr19:
38659314-38659314
ATintronicDe novo--Yuen2017 G
SIPA1L3     AU075207chr19:
38436811-38436811
TAintronicDe novo--Yuen2017 G
SIPA1L3     AU3649304chr19:
38651448-38651448
GCintronicDe novo--Yuen2017 G
SIPA1L3     7-0248-003chr19:
38578397-38578397
GAintronicDe novo--Yuen2017 G
SIPA1L3     1-0402-003chr19:
38510157-38510157
AGintronicDe novo--Yuen2017 G
SIPA1L3     AU4032307chr19:
38538528-38538528
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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