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Results for "PROCA1"

Variant Events: 13

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
PROCA1     mAGRE5887chr17:
27031814-27031816		TGCTexonicPaternalframeshift deletionNM_152465
NM_001304949
NM_001304952		c.137_138del
c.110_111del
c.143_144del		p.C46fs
p.C37fs
p.C48fs		-2.472E-5Cirnigliaro2023 G
PROCA1     mAGRE5885chr17:
27031814-27031816		TGCTexonicPaternalframeshift deletionNM_152465
NM_001304949
NM_001304952		c.137_138del
c.110_111del
c.143_144del		p.C46fs
p.C37fs
p.C48fs		-2.472E-5Cirnigliaro2023 G
PROCA1     SP0023546chr17:
27031351-27031351		CTexonicDe novosynonymous SNVNM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.G114A
c.G330A
c.G303A
c.G336A
c.G114A		p.E38E
p.E110E
p.E101E
p.E112E
p.E38E		--Fu2022 E
Trost2022 G
Zhou2022 GE
PROCA1     mAGRE4201chr17:
27031341-27031341		GAexonicMaternalstopgainNM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.C124T
c.C340T
c.C313T
c.C346T
c.C124T		p.R42X
p.R114X
p.R105X
p.R116X
p.R42X		10.48.35E-6Cirnigliaro2023 G
PROCA1     Shi2013:2chr17:
27030631-27030631		GGGexonicInheritedframeshift insertionNM_001304951
NM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.608dupC
c.740dupC
c.956dupC
c.929dupC
c.962dupC
c.740dupC		p.A203fs
p.A247fs
p.A319fs
p.A310fs
p.A321fs
p.A247fs		--Shi2013 G
PROCA1     7-0023-003chr17:
27033354-27033354		GAintronicDe novo--Trost2022 G
Yuen2017 G
PROCA1     MSSNG00354-004chr17:
27038813-27038814		TCTUTR5De novo--Trost2022 G
PROCA1     Codina-Sola2015:ASD_34chr17:
27031323-27031323		ACsplicingUnknownsplicing16.710.0051Codina-Sola2015 E
PROCA1     SP0037882chr17:
27038048-27038048		GTUTR5De novo--Trost2022 G
PROCA1     Shi2013:1chr17:
27030631-27030631		GGGexonicInheritedframeshift insertionNM_001304951
NM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.608dupC
c.740dupC
c.956dupC
c.929dupC
c.962dupC
c.740dupC		p.A203fs
p.A247fs
p.A319fs
p.A310fs
p.A321fs
p.A247fs		--Shi2013 G
PROCA1     2-1741-003chr17:
27030158-27030158		GTdownstreamDe novo--Yuen2017 G
PROCA1     2-1169-004chr17:
27032528-27032528		GCintronicDe novo--Trost2022 G
Yuen2017 G
PROCA1     mAGRE5656chr17:
27030727-27030797		CCCTGCCCCCGGCCATTGTAACTGTCCTCGCTCTCCAGCTCTTCCCGGCTTTCTGGGCTGGACTCGGACATCexonicMaternalframeshift deletionNM_001304951
NM_001304954
NM_152465
NM_001304949
NM_001304952
NM_001304953		c.442_511del
c.574_643del
c.790_859del
c.763_832del
c.796_865del
c.574_643del		p.M148fs
p.M192fs
p.M264fs
p.M255fs
p.M266fs
p.M192fs		-2.471E-5Cirnigliaro2023 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
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