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Results for "PMF1"

Variant Events: 38

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
PMF1     2-0132-004chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     1-0541-003chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     1-0336-004chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     1-0826-004chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     1-0336-004chr1:
156186601-156186601		GGGGTGCGGACintronicDe novo--Trost2022 G
PMF1     2-0132-004chr1:
156186601-156186601		GGGGTGCGGACintronicDe novo--Trost2022 G
PMF1     2-1562-003chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     1-0567-003chr1:
156186601-156186601		GGGTGCGGACintronicDe novo--Trost2022 G
PMF1     1-1006-003Achr1:
156188465-156188465		CTintronicDe novo--Trost2022 G
Trost2022 G
PMF1     1-0272-003chr1:
156186641-156186641		GGCGGCGGTGGGGGTGCCGTCCCGCCGGCCCGTCGTGCTGCCintronicDe novo--Trost2022 G
PMF1     2-0304-003chr1:
156204533-156204535		CAGCintronicDe novo--Trost2022 G
PMF1     111299chr1:
156195445-156195445		CGexonicnonsynonymous SNVNM_001199654c.C259Gp.P87A6.7295.022E-5Woodbury-Smith2022 E
PMF1     1025chr1:
156200282-156200282		GAintronicDe novo--Trost2022 G
Trost2022 G
PMF1     1-0567-003chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     4-0056-003chr1:
156186611-156186611		AACCintronicDe novo--Trost2022 G
PMF1     SP0087907chr1:
156206064-156206064		CTintronicDe novo-1.0E-4Fu2022 E
Trost2022 G
Trost2022 G
PMF1     4-0054-003chr1:
156186638-156186638		TCGintronicDe novo--Trost2022 G
PMF1     SP0034655chr1:
156206151-156206151		CTexonicDe novononsynonymous SNVNM_001199653
NM_001199661		c.C380T
c.C380T		p.P127L
p.P127L		14.018.256E-6Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
PMF1     4-0064-003chr1:
156186612-156186612		TTCCCintronicDe novo--Trost2022 G
PMF1     2-0304-003chr1:
156204551-156204551		CTintronicDe novo--Trost2022 G
PMF1     2-1374-003chr1:
156193352-156193352		GTintronicDe novo--Trost2022 G
Trost2022 G
Yuen2017 G
PMF1     5-0131-003chr1:
156186639-156186639		CCTGAintronicDe novo--Yuen2017 G
PMF1     2-1549-003chr1:
156190419-156190436		ATGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTintronicDe novo--Yuen2017 G
PMF1     1-0541-003chr1:
156186592-156186592		GGCGTGTintronicDe novo--Trost2022 G
PMF1     2-1562-003chr1:
156186592-156186592		GGTintronicDe novo--Trost2022 G
PMF1     2-0132-004chr1:
156186598-156186598		TGCGintronicDe novo--Trost2022 G
PMF1     1-0567-003chr1:
156186592-156186592		GGCGTGTintronicDe novo--Trost2022 G
PMF1     1-1006-003Achr1:
156185564-156185564		CTintronicDe novo--Trost2022 G
Trost2022 G
PMF1     1-0567-003chr1:
156186589-156186589		ACGintronicDe novo--Trost2022 G
PMF1     2-0270-003chr1:
156186572-156186572		CTintronicDe novo--Trost2022 G
PMF1     1-0567-003chr1:
156186599-156186599		TGintronicDe novo--Trost2022 G
PMF1     1-0296-003chr1:
156186599-156186599		TGintronicDe novo--Trost2022 G
PMF1     1-0541-003chr1:
156186601-156186601		GGGTGCGGACintronicDe novo--Trost2022 G
PMF1     2-1562-003chr1:
156186601-156186601		GGGTGCGGACintronicDe novo--Trost2022 G
PMF1     2-0202-004chr1:
156186598-156186598		TTGCGTGintronicDe novo--Trost2022 G
PMF1     2-1619-004chr1:
156186598-156186598		TGCGintronicDe novo--Trost2022 G
PMF1     1-0541-003chr1:
156186599-156186599		TGintronicDe novo--Trost2022 G
PMF1     4-0056-003chr1:
156186598-156186598		TTGCGTGintronicDe novo--Trost2022 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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