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Results for "COL4A4"

Variant Events: 20

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
COL4A4     AU2139303chr2:
228004732-228004732
TCintronicDe novo--Yuen2017 G
COL4A4     iHART1224chr2:
227872192-227872192
CTexonicDe novononsynonymous SNVNM_000092c.G4922Ap.C1641Y19.0-Ruzzo2019 G
COL4A4     2-1085-003chr2:
227947589-227947589
TCintronicDe novo--Yuen2017 G
COL4A4     1-0901-004chr2:
228019735-228019735
GCintronicDe novo--Yuen2017 G
COL4A4     13964.p1chr2:
227963326-227963326
CTintronicDe novo--Turner2016 G
COL4A4     Cukier2014:7531chr2:
227915847-227915847
CTexonicUnknownnonsynonymous SNVNM_000092c.G2996Ap.G999E13.890.0117Cukier2014 E
COL4A4     AU1521301chr2:
227998123-227998123
CTintronicDe novo--Yuen2017 G
COL4A4     3-0307-000chr2:
228010111-228010111
CTintronicDe novo--Yuen2017 G
COL4A4     iHART1462chr2:
227872161-227872161
CTexonicPaternalstopgainNM_000092c.G4953Ap.W1651X44.0-Ruzzo2019 G
COL4A4     AU3586303chr2:
227882084-227882084
CTintronicDe novo--Yuen2017 G
COL4A4     14421.p1chr2:
227872302-227872302
GAexonicDe novosynonymous SNVNM_000092c.C4812Tp.H1604H--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
COL4A4     2-1272-003chr2:
227988624-227988624
CTintronicDe novo--Yuen2016 G
COL4A4     1-0025-004chr2:
227927618-227927618
GAintronicDe novo--Yuen2017 G
COL4A4     1-0043-003chr2:
228015726-228015726
ACintronicDe novo--Yuen2017 G
COL4A4     1645001chr2:
227919330-227919330
CTexonicDe novononsynonymous SNVNM_000092c.G2840Ap.R947Q6.4555.797E-5Satterstrom2020 E
COL4A4     AU2495302chr2:
227964068-227964068
CAintronicDe novo--Yuen2017 G
COL4A4     AU4315302chr2:
227883885-227883885
CTintronicDe novo--Yuen2017 G
COL4A4     AU2248302chr2:
228002560-228002568
GTTTTTTTTGTTTTTTTintronicDe novo--Yuen2017 G
COL4A4     AU4069302chr2:
228003963-228003963
GAintronicDe novo--Yuen2017 G
COL4A4     3-0436-000chr2:
228017972-228017972
CTintronicDe novo--Yuen2016 G
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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