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Results for "AP5Z1"

Variant Events: 14

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
AP5Z1     7-0130-003chr7:
4827430-4827430
GAintronicDe novo--Yuen2017 G
AP5Z1     AU4012302chr7:
4825938-4825938
CTexonicDe novononsynonymous SNVNM_014855c.C1190Tp.P397L2.1466.656E-5Yuen2017 G
AP5Z1     5-0128-003chr7:
4818980-4818982
CATCintronicDe novo--Yuen2017 G
AP5Z1     09C79974chr7:
4829862-4829862
CGintronicDe novo5.073-Fu2022 E
Satterstrom2020 E
AP5Z1     SP0089373chr7:
4825315-4825315
GTexonicDe novononsynonymous SNVNM_014855c.G1132Tp.G378W13.71-Fu2022 E
AP5Z1     SP0009908chr7:
4827757-4827757
GTintronicDe novo--Fu2022 E
AP5Z1     SP0100365chr7:
4825365-4825365
ATintronicDe novo--Fu2022 E
AP5Z1     2-1526-003chr7:
4820788-4820788
GTintronicDe novo--Yuen2017 G
AP5Z1     SP0028260chr7:
4825249-4825249
CTexonicDe novononsynonymous SNVNM_014855c.C1066Tp.R356W14.537.278E-5Feliciano2019 E
Fu2022 E
AP5Z1     74-0081chr7:
4830311-4830311
CTexonicInheritednonsynonymous SNVNM_014855c.C1946Tp.A649V13.29-Patowary2019 E
AP5Z1     DEASD_1057_001chr7:
4830947-4830947
GAexonicDe novosynonymous SNVNM_014855c.G2355Ap.T785T-9.599E-6Fu2022 E
Satterstrom2020 E
AP5Z1     iHART1798chr7:
4829461-4829461
AGsplicingPaternalsplicing12.62-Ruzzo2019 G
AP5Z1     iHART2324chr7:
4824676-4824676
CTexonicMaternalstopgainNM_014855c.C928Tp.R310X21.02.692E-5Ruzzo2019 G
AP5Z1     iHART1797chr7:
4829461-4829461
AGsplicingPaternalsplicing12.62-Ruzzo2019 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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