or
or
Exact

Results for "LRRC7"

Variant Events: 67

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
LRRC7     7-0059-003chr1:
70235975-70235975
CTintronicDe novo--Yuen2017 G
LRRC7     2-1341-003chr1:
70291463-70291467
TGTAATexonicDe novoframeshift deletionNM_020794c.341_344delp.C114fs--Yuen2015 G
LRRC7     AU2975302chr1:
69345366-69345366
CTintergenicDe novo--Yuen2017 G
LRRC7     AU2975302chr1:
70027153-70027153
AGintergenicDe novo--Yuen2017 G
LRRC7     5-0117-003chr1:
69715010-69715010
CTintergenicDe novo--Yuen2017 G
LRRC7     5-0117-003chr1:
70325361-70325361
ACintronicDe novo--Yuen2017 G
LRRC7     AU031204chr1:
69736636-69736636
CTintergenicDe novo--Yuen2017 G
LRRC7     AU065304chr1:
69626935-69626935
AATintergenicDe novo--Yuen2017 G
LRRC7     5-0017-003chr1:
69448815-69448815
CTintergenicDe novo--Yuen2017 G
LRRC7     2-1378-003chr1:
69544900-69544900
AGintergenicDe novo--Yuen2017 G
LRRC7     1-0565-004chr1:
70356873-70356873
CTintronicDe novo--Yuen2017 G
LRRC7     5-0110-003chr1:
69096085-69096085
TCintergenicDe novo--Yuen2017 G
LRRC7     3-0391-000chr1:
69191829-69191829
TCintergenicDe novo--Yuen2017 G
LRRC7     AU3761302chr1:
70087803-70087803
AGintergenicDe novo--Yuen2017 G
LRRC7     1-0443-003chr1:
70375856-70375856
TCintronicDe novo--Yuen2016 G
LRRC7     13023.p1chr1:
69427632-69427632
AGintergenicDe novo--Turner2016 G
LRRC7     3-0391-000chr1:
70537816-70537816
AGintronicDe novo--Yuen2017 G
LRRC7     AU2089301chr1:
69501162-69501162
GAintergenicDe novo--Yuen2017 G
LRRC7     13393.p1chr1:
69448840-69448840
TCintergenicDe novo--Turner2016 G
LRRC7     AU072504chr1:
69683091-69683091
CAintergenicDe novo--Yuen2017 G
LRRC7     11456.p1chr1:
69932513-69932513
CTintergenicDe novo--Turner2016 G
LRRC7     2-1501-003chr1:
69432090-69432091
AGAGGintergenicDe novo--Yuen2017 G
LRRC7     AU072504chr1:
69739157-69739157
GAintergenicDe novo--Yuen2017 G
LRRC7     AU4356302chr1:
69317767-69317767
GAintergenicDe novo--Yuen2017 G
LRRC7     1-0289-003chr1:
69891153-69891153
ACintergenicDe novo--Yuen2017 G
LRRC7     2-1195-003chr1:
69971086-69971086
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     AU4089301chr1:
70027082-70027082
CTintergenicDe novo--Yuen2017 G
LRRC7     2-1140-003chr1:
69913331-69913331
CTintergenicDe novo--Yuen2017 G
LRRC7     2-1644-003chr1:
69629366-69629366
GCintergenicDe novo--Yuen2017 G
LRRC7     AU1725302chr1:
69367454-69367454
AGintergenicDe novo--Yuen2017 G
LRRC7     AU3807302chr1:
70342792-70342792
CAintronicDe novo--Yuen2017 G
LRRC7     AU4223302chr1:
69961087-69961087
ATintergenicDe novo--Yuen2017 G
LRRC7     2-1380-003chr1:
69320454-69320454
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     5-0146-003chr1:
70014278-70014278
ACintergenicDe novo--Yuen2017 G
LRRC7     AU3912302chr1:
69797243-69797243
TCintergenicDe novo--Yuen2017 G
LRRC7     5-0021-003chr1:
69067655-69067655
TGintergenicDe novo--Yuen2017 G
LRRC7     1-0652-003chr1:
70595493-70595493
AGintergenicDe novo--Yuen2017 G
LRRC7     2-0028-003chr1:
70274978-70274978
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     3-0134-000chr1:
69706460-69706460
ACintergenicDe novo--Yuen2017 G
LRRC7     2-1328-003chr1:
69194650-69194650
TCintergenicDe novo--Yuen2017 G
LRRC7     2-1116-003chr1:
69702121-69702121
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     AU006804chr1:
70271257-70271257
GAintronicDe novo--Yuen2017 G
LRRC7     1-0065-004chr1:
70327505-70327505
GGACACTGGAAATCACintronicDe novo--Yuen2017 G
LRRC7     1-0806-003chr1:
69617419-69617419
AGintergenicDe novo--Yuen2017 G
LRRC7     2-0309-005chr1:
69870242-69870242
GTintergenicDe novo--Yuen2017 G
LRRC7     2-1277-004chr1:
69775112-69775112
ACintergenicDe novo--Yuen2017 G
LRRC7     AU058104chr1:
69277065-69277065
TCintergenicDe novo--Yuen2017 G
LRRC7     1-0454-003chr1:
69152970-69152970
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     AU4176302chr1:
70055050-70055050
TGintergenicDe novo--Yuen2017 G
LRRC7     AU3175303chr1:
69593338-69593338
TCintergenicDe novo--Yuen2017 G
LRRC7     5-0114-003chr1:
69633728-69633728
GCintergenicDe novo--Yuen2017 G
LRRC7     2-1176-003chr1:
70312158-70312158
GAintronicDe novo--Yuen2017 G
LRRC7     2-1364-003chr1:
70043413-70043413
TCintergenicDe novo--Yuen2017 G
LRRC7     5-0114-003chr1:
69962526-69962526
ACintergenicDe novo--Yuen2017 G
LRRC7     2-1577-003chr1:
70273474-70273474
CTintronicDe novo--Yuen2017 G
LRRC7     2-1277-003chr1:
69775112-69775112
ACintergenicDe novo--Yuen2017 G
LRRC7     2-0070-003chr1:
70571968-70571968
GAintronicDe novo--Yuen2017 G
LRRC7     1-0417-003chr1:
70217058-70217058
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     2-1480-003chr1:
69561311-69561311
AGintergenicDe novo--Yuen2016 G
LRRC7     AU4188302chr1:
70120176-70120176
CTintergenicDe novo--Yuen2017 G
LRRC7     2-1359-003chr1:
69587536-69587536
CTintergenicDe novo--Yuen2017 G
LRRC7     2-1368-003chr1:
69018005-69018005
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC7     2-1389-003chr1:
70560260-70560260
AGintronicDe novo--Yuen2017 G
LRRC7     1-0640-003chr1:
69399515-69399515
GAintergenicDe novo--Yuen2017 G
LRRC7     7-0059-003chr1:
70082307-70082307
CTintergenicDe novo--Yuen2017 G
LRRC7     1-0079-003chr1:
70294629-70294633
TAAGGTintronicDe novo--Yuen2017 G
LRRC7     1-0255-003chr1:
69467250-69467250
GAintergenicDe novo--Yuen2016 G
Yuen2017 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