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Results for "MFSD8"

Variant Events: 15

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
MFSD8     AU071204chr4:
128883825-128883825
CTintronicDe novo--Trost2022 G
Yuen2017 G
MFSD8     Yin2020:041chr4:
128864993-128864993
TCexonicnonsynonymous SNVNM_152778c.A353Gp.N118S12.238.243E-6Yin2020 T
MFSD8     iHART2877chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Ruzzo2019 G
MFSD8     iHART2878chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Ruzzo2019 G
MFSD8     mAGRE2879chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Cirnigliaro2023 G
MFSD8     iHART2879chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Ruzzo2019 G
MFSD8     SSC06473chr4:
128886275-128886275
CAexonicDe novononsynonymous SNVNM_152778c.G14Tp.R5L9.967-Fu2022 E
Trost2022 G
MFSD8     mAGRE2878chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Cirnigliaro2023 G
MFSD8     mAGRE2877chr4:
128843080-128843081
ACAexonicMaternalframeshift deletionNM_152778c.1036delGp.V346fs--Cirnigliaro2023 G
MFSD8     08C73163chr4:
128865190-128865190
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
MFSD8     1-0558-003chr4:
128868578-128868578
CAintronicDe novo--Yuen2017 G
MFSD8     13088.p1chr4:
128886275-128886275
CAexonicDe novononsynonymous SNVNM_152778c.G14Tp.R5L9.967-Satterstrom2020 E
Zhou2022 GE
MFSD8     3-0728-000chr4:
128878293-128878293
GAintronicDe novo--Trost2022 G
MFSD8     1-0887-003chr4:
128886456-128886456
CGintronicDe novo--Trost2022 G
Trost2022 G
MFSD8     AUTPGX_1015chr4:
128877712-128877712
GAintronicDe novo--Trost2022 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
Curation notesView
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