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Results for "PMPCA"

Variant Events: 4

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
PMPCA     JASD_Fam0064chr9:
139313507-139313507
GCexonicDe novononsynonymous SNVNM_001282944
NM_001282946
NM_015160
c.G819C
c.G912C
c.G1212C
p.M273I
p.M304I
p.M404I
22.6-Takata2018 E
PMPCA     DEASD_1091_001chr9:
139313488-139313488
CTintronicDe novo--Fu2022 E
Satterstrom2020 E
PMPCA     iHART1618chr9:
139311505-139311505
TTAexonicPaternalstopgainNM_001282944
NM_001282946
NM_015160
c.344dupA
c.437dupA
c.737dupA
p.Y115_T116delinsX
p.Y146_T147delinsX
p.Y246_T247delinsX
-2.49E-5Ruzzo2019 G
PMPCA     SP0107614chr9:
139305041-139305041
CAUTR5De novo--Fu2022 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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