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Results for "SLCO1C1"

Variant Events: 24

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
SLCO1C1     13533.p1chr12:
20864352-20864352		AGexonicDe novononsynonymous SNVNM_001145944
NM_017435
NM_001145945
NM_001145946		c.A83G
c.A437G
c.A437G
c.A437G		p.N28S
p.N146S
p.N146S
p.N146S		16.138.241E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
SLCO1C1     AU4233301chr12:
20871116-20871116		CTintronicDe novo--Yuen2017 G
SLCO1C1     12906.p1chr12:
20890190-20890190		GTexonicDe novononsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.G1178T
c.G1385T
c.G1532T
c.G1532T		p.R393M
p.R462M
p.R511M
p.R511M		14.46-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SLCO1C1     2-1577-003chr12:
20905733-20905733		GTUTR3De novo--Yuen2017 G
SLCO1C1     PN400190chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     1-0547-003chr12:
20853402-20853402		AGintronicDe novo--Yuen2017 G
SLCO1C1     AU3768302chr12:
20849403-20849403		CAintronicDe novo--Yuen2017 G
SLCO1C1     PN400113chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     PN400261chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     2-1330-003chr12:
20880735-20880735		GTintronicDe novo--Yuen2016 G
Yuen2017 G
SLCO1C1     2-1577-003chr12:
20905742-20905742		TAUTR3De novo--Yuen2017 G
SLCO1C1     PN400170chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     7-0119-003chr12:
20955212-20955212		TGintergenicDe novo--Yuen2017 G
SLCO1C1     PN400424chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     AU4164301chr12:
20915899-20915899		CGintergenicDe novo--Yuen2017 G
SLCO1C1     2-1425-003chr12:
20959551-20959551		GAintergenicDe novo--Yuen2017 G
SLCO1C1     AU2863302chr12:
20879039-20879039		GAintronicDe novo--Yuen2017 G
SLCO1C1     SSC07229chr12:
20890190-20890190		GTexonicDe novononsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.G1178T
c.G1385T
c.G1532T
c.G1532T		p.R393M
p.R462M
p.R511M
p.R511M		14.46-Lim2017 E
SLCO1C1     1-0161-004chr12:
20898258-20898258		GGCCintronicDe novo--Yuen2017 G
SLCO1C1     PN400178chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     PN400312chr12:
20876168-20876168		CTexonicUnknownnonsynonymous SNVNM_001145944
NM_001145945
NM_017435
NM_001145946		c.C812T
c.C1019T
c.C1166T
c.C1166T		p.S271F
p.S340F
p.S389F
p.S389F		21.60.0067Leblond2019 E
SLCO1C1     AU015903chr12:
20901681-20901681		ACintronicDe novo--Yuen2017 G
SLCO1C1     AU4286302chr12:
20866249-20866249		GAintronicDe novo--Yuen2017 G
SLCO1C1     1-0404-003chr12:
20852990-20852990		GAintronicDe 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
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