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Results for "COL25A1"

Variant Events: 44

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
COL25A1     1-0435-003chr4:
109980142-109980142
AGintronicDe novo--Yuen2017 G
COL25A1     5-0017-004chr4:
110325215-110325215
TGintergenicDe novo--Yuen2017 G
COL25A1     2-1275-003chr4:
110325215-110325215
TGintergenicDe novo--Yuen2017 G
COL25A1     2-1562-004chr4:
109751098-109751098
CGintronicDe novo--Yuen2017 G
COL25A1     5-0055-003chr4:
110331460-110331460
TCintergenicDe novo--Yuen2017 G
COL25A1     1-0265-004chr4:
110224069-110224069
GAupstreamDe novo--Yuen2017 G
COL25A1     1-0533-003chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     1-0560-003chr4:
109957149-109957149
TCintronicDe novo--Yuen2017 G
COL25A1     2-1140-003chr4:
109868126-109868126
GAintronicDe novo--Yuen2017 G
COL25A1     AU024607chr4:
110218897-110218897
TCintronicDe novo--Yuen2017 G
COL25A1     AU1795303chr4:
110109466-110109473
GACAACAAGACAAintronicDe novo--Yuen2017 G
COL25A1     1-0265-003chr4:
110224069-110224069
GAupstreamDe novo--Yuen2017 G
COL25A1     1-0632-003chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     1-0482-003chr4:
109802230-109802230
CTintronicDe novo--Yuen2017 G
COL25A1     2-1268-003chr4:
110104287-110104287
TCintronicDe novo--Yuen2016 G
Yuen2017 G
COL25A1     2-1348-003chr4:
110163779-110163779
GCintronicDe novo--Yuen2017 G
COL25A1     1-0567-003chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     AU0636303chr4:
109799527-109799527
CGintronicDe novo--Yuen2017 G
COL25A1     1-0563-004chr4:
110068684-110068684
GAintronicDe novo--Yuen2017 G
COL25A1     AU066104chr4:
110020878-110020878
GTintronicDe novo--Yuen2017 G
COL25A1     2-1250-003chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     7-0067-003chr4:
109780093-109780093
GTintronicDe novo--Yuen2017 G
COL25A1     1-0559-005chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     3-0209-000chr4:
109768972-109768972
GCintronicDe novo--Yuen2017 G
COL25A1     7-0058-003chr4:
110009842-110009846
TAGTATintronicDe novo--Yuen2017 G
COL25A1     AU3610302chr4:
109832164-109832164
CTintronicDe novo--Yuen2017 G
COL25A1     1-0144-004chr4:
110325215-110325215
TGintergenicDe novo--Yuen2017 G
COL25A1     AU4054301chr4:
109981307-109981307
GAintronicDe novo--Yuen2017 G
COL25A1     12118.p1chr4:
109790273-109790274
GTGexonicDe novoframeshift deletionNM_001256074
NM_032518
NM_198721
c.1041delA
c.1053delA
c.1053delA
p.E347fs
p.E351fs
p.E351fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
COL25A1     AU2495302chr4:
109971686-109971686
GAintronicDe novo--Yuen2017 G
COL25A1     1-0571-003chr4:
109837155-109837155
TCintronicDe novo--Yuen2017 G
COL25A1     1-0324-003chr4:
110310611-110310611
TCintergenicDe novo--Yuen2017 G
COL25A1     AU2100302chr4:
109871095-109871095
GAintronicDe novo--Yuen2017 G
COL25A1     2-1283-003chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     AU031004chr4:
109853253-109853253
AGintronicDe novo--Yuen2017 G
COL25A1     1-0067-004chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     A27chr4:
109801556-109801556
TGintronicDe novo--Wu2018 G
COL25A1     1-0169-004chr4:
110325208-110325208
AGintergenicDe novo--Yuen2017 G
COL25A1     5-0073-003chr4:
110008945-110008945
AGintronicDe novo--Yuen2017 G
COL25A1     1-0567-004chr4:
110325215-110325215
TGintergenicDe novo--Yuen2017 G
COL25A1     1-0080-003chr4:
110245226-110245226
CTintergenicDe novo--Yuen2017 G
COL25A1     1-0080-003chr4:
109977992-109977992
GTintronicDe novo--Yuen2017 G
COL25A1     1-0161-003chr4:
110257683-110257683
TCintergenicDe novo--Yuen2017 G
COL25A1     200675370@1082034608chr4:
109755587-109755587
CTintronicDe novo--Satterstrom2020 E
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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