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Results for "INPP5A"

Variant Events: 36

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
INPP5A     SMHC00852d000chr10:
134503896-134503896
GAexonicDe novononsynonymous SNVNM_005539c.G307Ap.A103T21.4-Yuan2023 E
INPP5A     2-0182-003chr10:
134363211-134363211
CTintronicDe novo--Yuen2017 G
INPP5A     2-1497-003chr10:
134370936-134370936
CTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     1-0495-003chr10:
134536986-134536986
GAintronicDe novo--Yuen2017 G
INPP5A     1-0998-003chr10:
134586874-134586874
CTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     SP0128793chr10:
134563339-134563339
AGexonicDe novononsynonymous SNVNM_005539c.A893Gp.N298S17.018.3E-6Fu2022 E
Zhou2022 GE
INPP5A     AU2293301chr10:
134512546-134512546
GTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     SP0010086chr10:
134463931-134463931
GCexonicDe novononsynonymous SNVNM_005539c.G228Cp.L76F9.502-Fu2022 E
Trost2022 G
Zhou2022 GE
INPP5A     7-0249-004chr10:
134585176-134585176
AGintronicDe novo--Yuen2017 G
INPP5A     AU075703chr10:
134497930-134497930
TCintronicDe novo--Yuen2017 G
INPP5A     AU066404chr10:
134478467-134478467
GAintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     5-5025-004chr10:
134385246-134385246
AGintronicDe novo--Trost2022 G
INPP5A     MSSNG00406-003chr10:
134404873-134404873
CTintronicDe novo--Trost2022 G
INPP5A     1-0513-003chr10:
134359461-134359461
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
INPP5A     MSSNG00129-003chr10:
134357515-134357515
GAintronicDe novo--Trost2022 G
INPP5A     5-5146-005chr10:
134374019-134374019
GAintronicDe novo--Trost2022 G
INPP5A     3-0434-000chr10:
134578009-134578009
TCintronicDe novo--Trost2022 G
INPP5A     2-1735-003chr10:
134528846-134528846
TCintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     MSSNG00232-003chr10:
134582460-134582460
CTintronicDe novo--Trost2022 G
INPP5A     REACH000671chr10:
134482761-134482765
TAAACTintronicDe novo--Trost2022 G
INPP5A     AM03ZF-03chr10:
134533753-134533753
GCintronicDe novo--Trost2022 G
INPP5A     AU079605chr10:
134468567-134468567
CTintronicDe novo--Trost2022 G
INPP5A     7-0232-003chr10:
134481292-134481292
GAintronicDe novo--Trost2022 G
INPP5A     7-0330-003chr10:
134410092-134410092
CTintronicDe novo--Trost2022 G
INPP5A     7-0049-003chr10:
134443761-134443761
GAintronicDe novo--Trost2022 G
INPP5A     7902-01-001chr10:
134511300-134511300
GAintronicDe novo-1.068E-5Satterstrom2020 E
Trost2022 G
INPP5A     1-0181-004chr10:
134420809-134420809
GAintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     AU031404chr10:
134440556-134440556
CTintronicDe novo--Yuen2017 G
INPP5A     AU063004chr10:
134516342-134516342
CTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     AU055603chr10:
134586809-134586809
ACintronicDe novo--Trost2022 G
INPP5A     AU3862305chr10:
134570497-134570497
AGintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     SP0016354chr10:
134595604-134595604
CTUTR3De novo5.0589.553E-5Trost2022 G
INPP5A     2-1620-004chr10:
134454951-134454951
GAintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     MSSNG00168-003chr10:
134584914-134584914
CTintronicDe novo--Trost2022 G
INPP5A     AU4310301chr10:
134358894-134358894
CTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5A     5-5162-003chr10:
134584932-134584932
GCintronicDe 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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