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Results for "LAMA5"

Variant Events: 20

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
LAMA5     12245-1chr20:
60887479-60887479
CTexonicDe novononsynonymous SNVNM_005560c.G9337Ap.A3113T10.26-Fu2022 E
LAMA5     505-09-112395chr20:
60891810-60891810
AGexonicDe novononsynonymous SNVNM_005560c.T7673Cp.L2558P13.511.041E-5Fu2022 E
Satterstrom2020 E
LAMA5     2-0171-003chr20:
60888928-60888928
TCintronicDe novo--Yuen2017 G
LAMA5     09C80082chr20:
60913598-60913598
CAexonicDe novononsynonymous SNVNM_005560c.G1544Tp.C515F18.54-Fu2022 E
Satterstrom2020 E
LAMA5     SJD_50chr20:
60902604-60902604
GAexonicMaternalnonsynonymous SNVNM_005560c.C4919Tp.S1640L17.224.0E-4Toma2013 E
LAMA5     1-0253-004chr20:
60888976-60888978
CGGCintronicDe novo--Yuen2017 G
LAMA5     1-0571-003chr20:
60941935-60941936
CTCintronicDe novo--Yuen2017 G
LAMA5     AU1542303chr20:
60888277-60888277
GAexonicDe novononsynonymous SNVNM_005560c.C8822Tp.T2941M17.23-Yuen2017 G
LAMA5     PN400137chr20:
60937530-60937530
GAexonicUnknownnonsynonymous SNVNM_005560c.C376Tp.R126C25.94.335E-5Leblond2019 E
LAMA5     11394.p1chr20:
60895953-60895953
GAintronicMosaic Mat.--Dou2017 E
LAMA5     258-07-108397chr20:
60888134-60888134
CTintronicDe novo-8.704E-6Satterstrom2020 E
LAMA5     SP0073601chr20:
60911409-60911409
GAexonicDe novosynonymous SNVNM_005560c.C2310Tp.P770P-3.419E-5Fu2022 E
LAMA5     ASC_CA_183_Achr20:
60901874-60901874
CTintronicDe novo-3.0E-4Satterstrom2020 E
LAMA5     SP0014851chr20:
60903308-60903308
GAexonicDe novosynonymous SNVNM_005560c.C4641Tp.S1547S-4.354E-5Fu2022 E
LAMA5     SP0105120chr20:
60893874-60893874
GAintronicDe novo-3.11E-5Fu2022 E
LAMA5     SP0140194chr20:
60885430-60885430
CTintronicDe novo--Fu2022 E
LAMA5     PN400312chr20:
60937530-60937530
GAexonicUnknownnonsynonymous SNVNM_005560c.C376Tp.R126C25.94.335E-5Leblond2019 E
LAMA5     7-0179-003chr20:
60900121-60900121
GAintronicDe novo--Yuen2017 G
LAMA5     ASC_CA_123_Achr20:
60906131-60906131
GAexonicDe novononsynonymous SNVNM_005560c.C3607Tp.R1203W13.887.525E-5Fu2022 E
Satterstrom2020 E
LAMA5     SP0007707chr20:
60904215-60904215
GCexonicDe novononsynonymous SNVNM_005560c.C4214Gp.A1405G2.266-Feliciano2019 E
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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