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Results for "FN1"

Variant Events: 23

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
FN1     SSC02989chr2:
216245617-216245617		CTexonicDe novononsynonymous SNVNM_002026
NM_212478
NM_001306129
NM_212482		c.G5078A
c.G5078A
c.G5351A
c.G5351A		p.R1693K
p.R1693K
p.R1784K
p.R1784K		16.17-Lim2017 E
FN1     PN400560chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     09C98474chr2:
216259404-216259404		CTexonicDe novononsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482		c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A		p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S		29.28.239E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
FN1     PN400321chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     7-0188-003chr2:
216266551-216266551		CTintronicDe novo--Yuen2017 G
FN1     SSC08165chr2:
216251636-216251636		TGexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482		c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C		p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T		12.02-Lim2017 E
FN1     PN400129chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     PN400285chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     PN400267chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     PN400559chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     PN400562chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     13573.p1chr2:
216251636-216251636		TGexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482		c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C		p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T		12.02-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
FN1     133350chr2:
216240027-216240027		CTexonicnonsynonymous SNVNM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482		c.G5524A
c.G5524A
c.G5524A
c.G5524A
c.G5797A
c.G5794A
c.G5794A
c.G6067A
c.G6067A		p.G1842S
p.G1842S
p.G1842S
p.G1842S
p.G1933S
p.G1932S
p.G1932S
p.G2023S
p.G2023S		34.02.472E-5Woodbury-Smith2022 E
FN1     2-1562-004chr2:
216265994-216265994		GGAintronicDe novo--Yuen2017 G
FN1     JASD_Fam0010chr2:
216239958-216239958		CTexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482		c.G5593A
c.G5593A
c.G5593A
c.G5593A
c.G5866A
c.G5863A
c.G5863A
c.G6136A
c.G6136A		p.V1865I
p.V1865I
p.V1865I
p.V1865I
p.V1956I
p.V1955I
p.V1955I
p.V2046I
p.V2046I		16.35-Takata2018 E
FN1     iHART2415chr2:
216271137-216271137		TCexonicDe novononsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482		c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G		p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C		21.2-Ruzzo2019 G
FN1     PN400371chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     PN400504chr2:
216226780-216226780		CTexonicUnknownnonsynonymous SNVNM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129		c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A		p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H		26.23.0E-4Leblond2019 E
FN1     PN400215chr2:
216226780-216226780		CTexonicUnknownnonsynonymous SNVNM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129		c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A		p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H		26.23.0E-4Leblond2019 E
FN1     PN400474chr2:
216289015-216289015		CTexonicUnknownnonsynonymous SNVNM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482		c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A		p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E		33.00.0023Leblond2019 E
FN1     11855.p1chr2:
216245617-216245617		CTexonicDe novononsynonymous SNVNM_002026
NM_212478
NM_001306129
NM_212482		c.G5078A
c.G5078A
c.G5351A
c.G5351A		p.R1693K
p.R1693K
p.R1784K
p.R1784K		16.17-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
FN1     13938.p1chr2:
216288853-216288853		CTintronicDe novo-3.299E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
FN1     PN400219chr2:
216226780-216226780		CTexonicUnknownnonsynonymous SNVNM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129		c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A		p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H		26.23.0E-4Leblond2019 E
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
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