or
or
Exact

Results for "LARS2"

Variant Events: 26

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
LARS2     PN400554chr3:
45500351-45500351		GCexonicUnknownnonsynonymous SNVNM_015340c.G723Cp.W241C24.7-Leblond2019 E
LARS2     2-0225-004chr3:
45504677-45504677		GGAintronicDe novo--Yuen2017 G
LARS2     PN400372chr3:
45500351-45500351		GCexonicUnknownnonsynonymous SNVNM_015340c.G723Cp.W241C24.7-Leblond2019 E
LARS2     PN400554chr3:
45500348-45500348		AACexonicUnknownframeshift insertionNM_015340c.720_721insCp.Q240fs--Leblond2019 E
LARS2     Cukier2014:17545chr3:
45518073-45518073		CAexonicUnknownnonsynonymous SNVNM_015340c.C972Ap.H324Q7.9480.0223Cukier2014 E
LARS2     AU2427301chr3:
45454725-45454725		GAintronicDe novo--Yuen2017 G
LARS2     PN400371chr3:
45500351-45500351		GCexonicUnknownnonsynonymous SNVNM_015340c.G723Cp.W241C24.7-Leblond2019 E
LARS2     PN400371chr3:
45500348-45500348		AACexonicUnknownframeshift insertionNM_015340c.720_721insCp.Q240fs--Leblond2019 E
LARS2     1-0173-004chr3:
45496763-45496763		TGintronicDe novo--Yuen2017 G
LARS2     1-0025-006chr3:
45618104-45618104		TCintergenicDe novo--Yuen2017 G
LARS2     PN400499chr3:
45500351-45500351		GCexonicUnknownnonsynonymous SNVNM_015340c.G723Cp.W241C24.7-Leblond2019 E
LARS2     PN400499chr3:
45500348-45500348		AACexonicUnknownframeshift insertionNM_015340c.720_721insCp.Q240fs--Leblond2019 E
LARS2     1-1000-003chr3:
45563179-45563179		TAintronicDe novo--Yuen2017 G
LARS2     PN400503chr3:
45537795-45537795		GAexonicUnknownnonsynonymous SNVNM_015340c.G1552Ap.D518N34.00.0037Leblond2019 E
LARS2     1-0382-003chr3:
45594977-45594977		AGintergenicDe novo--Yuen2017 G
LARS2     2-1382-003chr3:
45634534-45634534		GCintergenicDe novo--Yuen2016 G
Yuen2017 G
LARS2     PN400457chr3:
45537795-45537795		GAexonicUnknownnonsynonymous SNVNM_015340c.G1552Ap.D518N34.00.0037Leblond2019 E
LARS2     PN400470chr3:
45500351-45500351		GCexonicUnknownnonsynonymous SNVNM_015340c.G723Cp.W241C24.7-Leblond2019 E
LARS2     7-0095-004chr3:
45514172-45514172		TCintronicDe novo--Yuen2017 G
LARS2     PN400470chr3:
45500348-45500348		AACexonicUnknownframeshift insertionNM_015340c.720_721insCp.Q240fs--Leblond2019 E
LARS2     AU073006chr3:
45490811-45490811		CTintronicDe novo--Yuen2017 G
LARS2     AU4015302chr3:
45628746-45628746		GAintergenicDe novo--Yuen2017 G
LARS2     2-0297-003chr3:
45443104-45443104		CTintronicDe novo--Yuen2017 G
LARS2     Kim2020:B1chr3:
45554679-45554679		CTexonicDe novononsynonymous SNVNM_015340c.C1813Tp.R605C20.82.0E-4Kim2020 E
LARS2     AU056005chr3:
45492800-45492800		GAintronicDe novo--Yuen2017 G
LARS2     PN400372chr3:
45500348-45500348		AACexonicUnknownframeshift insertionNM_015340c.720_721insCp.Q240fs--Leblond2019 E
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

VariCarta Copyright © 2016-2020 Contact Us