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Results for "COL12A1"

Variant Events: 35

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
COL12A1     12390.p1chr6:
75875492-75875492
CTexonicDe novononsynonymous SNVNM_004370c.G2714Ap.R905H14.422.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
COL12A1     5L636chr6:
75912490-75912490
GCexonicDe novononsynonymous SNVNM_004370
NM_080645
c.C19G
c.C19G
p.P7A
p.P7A
9.3854.947E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
COL12A1     mAGRE2231chr6:
75893568-75893568
AGsplicingPaternalsplicing14.82-Cirnigliaro2023 G
COL12A1     mAGRE4912chr6:
75843140-75843140
TCsplicingPaternalsplicing11.638.434E-6Cirnigliaro2023 G
COL12A1     iHART2231chr6:
75893568-75893568
AGsplicingPaternalsplicing14.82-Ruzzo2019 G
COL12A1     SP0106772chr6:
75890932-75890934
TTATintronicDe novo-3.11E-5Fu2022 E
COL12A1     2-1416-003chr6:
75885759-75885759
GTintronicDe novo--Yuen2017 G
COL12A1     2-1416-004chr6:
75885759-75885759
GTintronicDe novo--Yuen2017 G
COL12A1     6268chr6:
75875492-75875492
CTexonicDe novononsynonymous SNVNM_004370c.G2714Ap.R905H14.422.0E-4Fu2022 E
COL12A1     MCD-013-3chr6:
75838134-75838134
AGexonicMaternalnonsynonymous SNVNM_080645
NM_004370
c.T2726C
c.T6218C
p.V909A
p.V2073A
24.8-Tuncay2023 G
COL12A1     SP0079570 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0105082chr6:
75851920-75851920
TGintronicDe novo--Trost2022 G
COL12A1     SP0071113chr6:
75851920-75851920
TGintronicDe novo--Trost2022 G
COL12A1     SP0073657 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     1-0495-003chr6:
75916005-75916005
TCupstreamDe novo--Trost2022 G
Yuen2017 G
COL12A1     SP0019454chr6:
75812216-75812216
CTintronicDe novo--Fu2022 E
COL12A1     4-0004-003chr6:
75804158-75804158
AATintronicDe novo--Trost2022 G
COL12A1     SP0188796 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0007340chr6:
75851921-75851921
TGintronicDe novo--Trost2022 G
COL12A1     SP0178778 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0186521 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0158322chr6:
75851920-75851920
TGintronicDe novo--Trost2022 G
COL12A1     SP0168316 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0113448 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
COL12A1     SP0141656chr6:
75851920-75851920
TGintronicDe novo--Trost2022 G
COL12A1     2-1416-003Achr6:
75885759-75885759
GTintronicDe novo--Trost2022 G
COL12A1     SP0119336chr6:
75890933-75890933
TAintronicDe novo--Trost2022 G
COL12A1     SP0017209chr6:
75865936-75865936
CGintronicDe novo--Trost2022 G
COL12A1     SP0159152chr6:
75884842-75884842
CAexonicDe novononsynonymous SNVNM_004370c.G2622Tp.K874N3.98-Trost2022 G
COL12A1     SP0078568chr6:
75851921-75851921
TGintronicDe novo--Trost2022 G
COL12A1     SP0086270chr6:
75851921-75851921
TGintronicDe novo--Trost2022 G
COL12A1     SP0088196chr6:
75875267-75875267
CTexonicDe novononsynonymous SNVNM_004370c.G2939Ap.S980N9.17-Fu2022 E
Trost2022 G
Zhou2022 GE
COL12A1     SP0142710chr6:
75865510-75865510
CTexonicDe novononsynonymous SNVNM_004370c.G3311Ap.R1104Q24.5-Fu2022 E
Trost2022 G
Zhou2022 GE
COL12A1     MCD-013-3chr6:
75893146-75893146
AGexonicPaternalnonsynonymous SNVNM_004370c.T1511Cp.I504T20.2-Tuncay2023 G
COL12A1     SP0009908chr6:
75893797-75893797
CTexonicDe novostopgainNM_004370c.G1061Ap.W354X19.9-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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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