or
or
Exact

Results for "ELMO3"

Variant Events: 6

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
ELMO3     3316_17auchr16:
67234798-67234798
AGexonicDe novononsynonymous SNVNM_024712c.A830Gp.N277S23.9-Fu2022 E
ELMO3     iHART1454chr16:
67236599-67236599
CTexonicPaternalstopgainNM_024712c.C1627Tp.R543X38.02.0E-4Ruzzo2019 G
ELMO3     SP0050118chr16:
67237126-67237126
CTexonicDe novononsynonymous SNVNM_024712c.C1939Tp.L647F12.041.142E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ELMO3     111311chr16:
67234419-67234419
CTexonicnonsynonymous SNVNM_024712c.C638Tp.S213F22.07.504E-5Woodbury-Smith2022 E
ELMO3     ASC_11147-1chr16:
67234822-67234822
TTGGCCCTGCTGACexonicDe novononframeshift insertionNM_024712c.854_855insGGCCCTGCTGACp.M285delinsMALLT--Fu2022 E
ELMO3     mAGRE1454chr16:
67236599-67236599
CTexonicPaternalstopgainNM_024712c.C1627Tp.R543X38.02.0E-4Cirnigliaro2023 G
Source Variant Information

, -

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
More