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Results for "LAMB1"

Variant Events: 17

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
LAMB1     SSC09614chr7:
107566657-107566657
CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Lim2017 E
LAMB1     13991.p1chr7:
107566657-107566657
CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G
LAMB1     AU3858302chr7:
107605058-107605058
CGexonicDe novononsynonymous SNVNM_002291c.G1637Cp.G546A21.3-Yuen2017 G
LAMB1     12657.p1chr7:
107642100-107642100
GTexonicDe novononsynonymous SNVNM_002291c.C116Ap.T39K34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
LAMB1     JASD_Fam0222chr7:
107569954-107569954
GAexonicDe novostopgainNM_002291c.C4648Tp.R1550X45.0-Takata2018 E
LAMB1     ASC_CA_95_Achr7:
107564433-107564433
AGexonicDe novononsynonymous SNVNM_002291c.T5324Cp.I1775T24.9-Satterstrom2020 E
LAMB1     09C81774chr7:
107564710-107564710
AGexonicDe novononsynonymous SNVNM_002291c.T5189Cp.L1730S25.31.651E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LAMB1     1-0377-003chr7:
107654164-107654164
ACintergenicDe novo--Yuen2017 G
LAMB1     13177.p1chr7:
107605145-107605145
AGintronicDe novo-3.0E-4Satterstrom2020 E
LAMB1     1-0486-003chr7:
107611861-107611861
CTintronicDe novo--Yuen2017 G
LAMB1     1-0757-003chr7:
107578152-107578153
GAGAGATCAintronicDe novo--Yuen2017 G
LAMB1     iHART2195chr7:
107591674-107591674
GAexonicMaternalstopgainNM_002291c.C3388Tp.R1130X44.0-Ruzzo2019 G
LAMB1     1-0638-003chr7:
107600712-107600712
ACintronicDe novo--Yuen2017 G
LAMB1     iHART1297chr7:
107564835-107564835
CCTAsplicingPaternalsplicing-1.864E-5Ruzzo2019 G
LAMB1     2-1333-003chr7:
107633723-107633723
CTintronicDe novo--Yuen2017 G
LAMB1     2-1702-004chr7:
107656583-107656583
GAintergenicDe novo--Yuen2017 G
LAMB1     7-0249-003chr7:
107614139-107614139
GAintronicDe novo--Yuen2017 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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