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Results for "LCT"

Variant Events: 8

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
LCT     SP0061928chr2:
136575391-136575391
GAexonicDe novosynonymous SNVNM_002299c.C1227Tp.S409S--Fu2022 E
LCT     SP0004650chr2:
136552342-136552342
CTexonicDe novosynonymous SNVNM_002299c.G4980Ap.L1660L--Fu2022 E
LCT     SP0065532chr2:
136574819-136574819
GCintronicDe novo--Fu2022 E
LCT     SP0003819chr2:
136569992-136569992
CAexonicDe novononsynonymous SNVNM_002299c.G2242Tp.V748F16.094.118E-5Fu2022 E
LCT     5-0114-003chr2:
136583602-136583602
AGintronicDe novo--Yuen2017 G
LCT     MT_28chr2:
136594528-136594528
ACexonicMaternalnonsynonymous SNVNM_002299c.T212Gp.F71C10.67-Toma2013 E
LCT     SP0092895chr2:
136594774-136594774
TAupstreamDe novo--Fu2022 E
LCT     A1446Bchr2:
136566672-136566672
CTexonicDe novononsynonymous SNVNM_002299c.G3245Ap.G1082E4.548-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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