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Results for "LMNTD1"

Variant Events: 32

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
LMNTD1     11089.p1chr12:
25775869-25775869
CTintronicDe novo--Turner2016 G
LMNTD1     11089.p1chr12:
25775871-25775871
GTintronicDe novo--Turner2016 G
LMNTD1     2-1245-003chr12:
25883693-25883697
CAAAACAAintergenicDe novo--Yuen2017 G
LMNTD1     1-0604-003chr12:
25774034-25774034
ACintronicDe novo--Yuen2017 G
LMNTD1     1-0985-003chr12:
25963279-25963279
CTintergenicDe novo--Yuen2017 G
LMNTD1     1-0526-003chr12:
25890496-25890496
CTintergenicDe novo--Yuen2017 G
LMNTD1     iHART2633chr12:
25672910-25672910
GAexonicMaternalstopgainNM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266
c.C646T
c.C778T
c.C835T
c.C898T
c.C544T
p.R216X
p.R260X
p.R279X
p.R300X
p.R182X
19.998.244E-6Ruzzo2019 G
LMNTD1     2-0219-004chr12:
25681435-25681435
TCintronicDe novo--Yuen2017 G
LMNTD1     2-1338-003chr12:
25667148-25667148
CAintronicDe novo--Yuen2017 G
LMNTD1     2-1318-004chr12:
25807682-25807682
GCintergenicDe novo--Yuen2017 G
LMNTD1     1-0041-003chr12:
25694729-25694729
TCintronicDe novo--Yuen2017 G
LMNTD1     2-1212-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
LMNTD1     AU1988302chr12:
25966412-25966412
GAintergenicDe novo--Yuen2017 G
LMNTD1     2-1425-003chr12:
25805865-25805865
GAintergenicDe novo--Yuen2017 G
LMNTD1     AU3692302chr12:
25853637-25853637
ATintergenicDe novo--Yuen2017 G
LMNTD1     iHART2630chr12:
25672910-25672910
GAexonicMaternalstopgainNM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266
c.C646T
c.C778T
c.C835T
c.C898T
c.C544T
p.R216X
p.R260X
p.R279X
p.R300X
p.R182X
19.998.244E-6Ruzzo2019 G
LMNTD1     AU4496301chr12:
25761095-25761095
GGCCintronicDe novo--Yuen2017 G
LMNTD1     5-0083-003chr12:
25658038-25658038
CAintronicDe novo--Yuen2017 G
LMNTD1     AU3912303chr12:
25689941-25689942
GCGintronicDe novo--Yuen2017 G
LMNTD1     G01-GEA-101-HIchr12:
25672804-25672804
ATexonicDe novononsynonymous SNVNM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266
c.T752A
c.T884A
c.T941A
c.T1004A
c.T650A
p.V251D
p.V295D
p.V314D
p.V335D
p.V217D
11.15-Satterstrom2020 E
LMNTD1     AU2787302chr12:
25901231-25901231
TAintergenicDe novo--Yuen2017 G
LMNTD1     AU3635301chr12:
25933375-25933375
GAintergenicDe novo--Yuen2017 G
LMNTD1     A3chr12:
25702439-25702439
GGGexonicDe novoframeshift insertionNM_152590
NM_001145728
NM_001145729
c.68dupC
c.131dupC
c.131dupC
p.S23fs
p.S44fs
p.S44fs
--Wu2018 G
LMNTD1     A29chr12:
25756136-25756136
TCintronicDe novo--Wu2018 G
LMNTD1     A18chr12:
25656720-25656721
TCTexonicDe novoframeshift deletionNM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266
c.951delG
c.1083delG
c.1140delG
c.1203delG
c.849delG
p.K317fs
p.K361fs
p.K380fs
p.K401fs
p.K283fs
--Wu2018 G
LMNTD1     14131.p1chr12:
25735355-25735355
CTintronicDe novo--Wilfert2021 G
LMNTD1     AU3907302chr12:
25952541-25952541
CTintergenicDe novo--Yuen2017 G
LMNTD1     2-1290-003chr12:
25909461-25909461
CTintergenicDe novo--Yuen2017 G
LMNTD1     2-1112-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
LMNTD1     7-0104-003chr12:
26020280-26020280
AGintergenicDe novo--Yuen2017 G
LMNTD1     1-0972-003chr12:
25976370-25976370
TCintergenicDe novo--Yuen2017 G
LMNTD1     AU056804chr12:
25865156-25865156
CTintergenicDe 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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