or
or
Exact

Results for "LAMB4"

Variant Events: 22

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
LAMB4     2-0503-003chr7:
107665853-107665853
TTCintronicDe novo--Yuen2017 G
LAMB4     AU1894304chr7:
107718926-107718926
GCintronicDe novo--Yuen2017 G
LAMB4     AU4235303chr7:
107703512-107703512
GAintronicDe novo--Yuen2017 G
LAMB4     3-0246-000chr7:
107715419-107715419
ACintronicDe novo--Yuen2016 G
LAMB4     Li2017:23974chr7:
107706887-107706888
CACexonicUnknownframeshift deletionNM_007356c.2604delTp.F868fs--Li2017 T
LAMB4     AU4033303chr7:
107760290-107760290
TCintronicDe novo--Yuen2017 G
LAMB4     11118.p1chr7:
107738816-107738818
GACGintronicDe novo-2.0E-4Satterstrom2020 E
LAMB4     2-1620-004chr7:
107738799-107738799
CCTTACGCTGGintronicDe novo--Yuen2017 G
LAMB4     2-0003-003chr7:
107738801-107738801
AAGCCintronicDe novo--Yuen2017 G
LAMB4     2-0309-004chr7:
107738799-107738799
CCTTACGCTGGintronicDe novo--Yuen2017 G
LAMB4     Li2017:17685chr7:
107708470-107708470
CTexonicUnknownnonsynonymous SNVNM_007356c.G2437Ap.G813S31.08.238E-6Li2017 T
LAMB4     7-0151-003chr7:
107745517-107745517
GCintronicDe novo--Yuen2017 G
LAMB4     iHART3046chr7:
107756563-107756564
ACAexonicMaternalframeshift deletionNM_007356c.77delGp.G26fs--Ruzzo2019 G
LAMB4     AU033Achr7:
107669504-107669504
CGexonicDe novononsynonymous SNVNM_007356c.G5130Cp.K1710N14.69-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LAMB4     2-1359-004chr7:
107738801-107738801
AAGCCintronicDe novo--Yuen2017 G
LAMB4     2-0135-004chr7:
107738799-107738799
CCTTACGCTGGintronicDe novo--Yuen2017 G
LAMB4     AC01-0061-01chr7:
107732025-107732025
CTintronicDe novo-1.728E-5Kosmicki2017 E
Satterstrom2020 E
LAMB4     A28chr7:
107708575-107708575
CTexonicDe novononsynonymous SNVNM_007356c.G2332Ap.G778R17.712.0E-4Wu2018 G
LAMB4     1-0991-003chr7:
107674660-107674660
AGexonicDe novononsynonymous SNVNM_007356c.T4811Cp.V1604A10.49-Yuen2017 G
LAMB4     A4chr7:
107692601-107692601
AGexonicDe novononsynonymous SNVNM_007356c.T3857Cp.L1286P13.22-Wu2018 G
LAMB4     A5chr7:
107735736-107735736
ACexonicDe novononsynonymous SNVNM_007356c.T1407Gp.D469E16.62.0E-4Wu2018 G
LAMB4     A17chr7:
107752318-107752318
AGexonicDe novononsynonymous SNVNM_007356c.T266Cp.I89T18.234.944E-5Wu2018 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