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Results for "RP1L1"

Variant Events: 14

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
RP1L1     14543.p1chr8:
10469363-10469363
CGexonicDe novononsynonymous SNVNM_178857c.G2245Cp.V749L9.26-Krumm2015 E
Satterstrom2020 E
RP1L1     SSC12726chr8:
10469363-10469363
CGexonicDe novononsynonymous SNVNM_178857c.G2245Cp.V749L9.26-Lim2017 E
RP1L1     2-1428-003chr8:
10500359-10500359
TCintronicDe novo--Yuen2016 G
Yuen2017 G
RP1L1     1-0551-003chr8:
10517578-10517578
TCintergenicDe novo--Yuen2017 G
RP1L1     A32chr8:
10487527-10487527
GTintronicDe novo--Wu2018 G
RP1L1     1-0965-003chr8:
10480545-10480545
CTexonicDe novononsynonymous SNVNM_178857c.G167Ap.R56H34.02.514E-5Yuen2017 G
RP1L1     10C102633Achr8:
10464932-10464932
CGexonicDe novononsynonymous SNVNM_178857c.G6676Cp.E2226Q1.3-DeRubeis2014 E
Kosmicki2017 E
RP1L1     AC01-0061-01chr8:
10468390-10468390
CTexonicDe novononsynonymous SNVNM_178857c.G3218Ap.R1073Q10.099.388E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RP1L1     7-0161-003chr8:
10495787-10495787
GTintronicDe novo--Yuen2017 G
RP1L1     11152.p1chr8:
10467580-10467580
TGexonicDe novononsynonymous SNVNM_178857c.A4028Cp.E1343A0.992-Iossifov2014 E
Kosmicki2017 E
RP1L1     7-0080-003chr8:
10511325-10511325
ACintronicDe novo--Yuen2017 G
RP1L1     11475.p1chr8:
10468066-10468067
AGAexonicDe novoframeshift deletionNM_178857c.3541delCp.L1181fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
RP1L1     1-0186-004chr8:
10506715-10506715
ATintronicDe novo--Yuen2017 G
RP1L1     AU2002301chr8:
10466981-10466981
CGexonicDe novononsynonymous SNVNM_178857c.G4627Cp.A1543P9.591-Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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