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Results for "CHL1"

Variant Events: 31

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
CHL1     Li2017:17629chr3:
424249-424249
CTsplicing;exonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C2071T
c.C2023T
c.C2071T
p.P691S
p.P675S
p.P691S
6.443-Li2017 T
CHL1     7-0166-003chr3:
432210-432210
ACintronicDe novo--Yuen2017 G
CHL1     AU076705chr3:
449022-449022
CAUTR3De novo--Yuen2017 G
CHL1     111317chr3:
386295-386295
CTexonicnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C751T
c.C703T
c.C751T
p.P251S
p.P235S
p.P251S
27.6-Woodbury-Smith2022 E
CHL1     2-1107-003chr3:
298221-298221
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CHL1     AU3399303chr3:
520605-520605
AGintergenicDe novo--Yuen2017 G
CHL1     1-0300-003chr3:
345255-345255
ACintronicDe novo--Yuen2017 G
CHL1     AU3918302chr3:
330657-330657
GAintronicDe novo--Yuen2017 G
CHL1     2-1128-003chr3:
628348-628348
AGintergenicDe novo--Yuen2017 G
CHL1     AU0039303chr3:
630660-630660
AGintergenicDe novo--Yuen2017 G
CHL1     Li2017:19599chr3:
440760-440760
CTexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C3155T
c.C3266T
c.C3314T
p.A1052V
p.A1089V
p.A1105V
35.01.0E-4Li2017 T
CHL1     1-0155-003chr3:
320096-320096
TGintronicDe novo--Yuen2017 G
CHL1     AU2333302chr3:
595100-595100
GCintergenicDe novo--Yuen2017 G
CHL1     1-0144-004chr3:
550731-550731
AGintergenicDe novo--Yuen2017 G
CHL1     2-1295-003chr3:
562713-562713
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CHL1     Li2017:23785chr3:
382569-382569
CTexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C478T
c.C478T
c.C478T
p.P160S
p.P160S
p.P160S
19.496.616E-5Li2017 T
CHL1     1-0772-003chr3:
514504-514505
TGTintergenicDe novo--Yuen2017 G
CHL1     Li2017:15036chr3:
404971-404971
TCexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.T1490C
c.T1442C
c.T1490C
p.I497T
p.I481T
p.I497T
23.3-Li2017 T
CHL1     14496.p1chr3:
553866-553866
AGintergenicDe novo--Turner2016 G
CHL1     2-1633-003chr3:
334179-334179
TCintronicDe novo--Yuen2017 G
CHL1     AU039305chr3:
573535-573535
CTintergenicDe novo--Yuen2017 G
CHL1     Li2017:19684chr3:
403486-403486
GAexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.G1411A
c.G1363A
c.G1411A
p.V471M
p.V455M
p.V471M
16.393.299E-5Li2017 T
CHL1     2-1066-003chr3:
275219-275219
TAintronicDe novo--Yuen2017 G
CHL1     Li2017:23136chr3:
424343-424343
CTexonicUnknownnonsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.C2165T
c.C2117T
c.C2165T
p.T722I
p.T706I
p.T722I
17.79-Li2017 T
CHL1     1-0121-003chr3:
434049-434049
CGintronicDe novo--Yuen2017 G
CHL1     1-0925-003chr3:
245228-245237
TGGATGGGATTGGATintronicDe novo--Yuen2017 G
CHL1     2-0219-004chr3:
238520-238520
CGUTR5De novo--Yuen2017 G
CHL1     1-0994-003chr3:
532645-532649
CTGTGCTGintergenicDe novo--Yuen2017 G
CHL1     AU4093304chr3:
429407-429407
GAintronicDe novo--Yuen2017 G
CHL1     AU4283301chr3:
401984-401984
GAexonicDe novononsynonymous SNVNM_001253388
NM_001253387
NM_006614
c.G1183A
c.G1135A
c.G1183A
p.D395N
p.D379N
p.D395N
11.75-Yuen2017 G
CHL1     Li2017:23258chr3:
419514-419514
GTexonicUnknownstopgainNM_001253388
NM_001253387
NM_006614
c.G1765T
c.G1717T
c.G1765T
p.G589X
p.G573X
p.G589X
44.0-Li2017 T
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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