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Results for "FMR1"

Variant Events: 6

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
FMR1     Marques2022:297chrX:
147030260-147030260
TCexonicnonsynonymous SNVNM_001185076
NM_001185082
NM_002024
c.T1732C
c.T1657C
c.T1795C
p.S578P
p.S553P
p.S599P
21.4-Marques2022 ET
FMR1     AU3175303chrX:
147046299-147046299
CTintergenicDe novo--Yuen2017 G
FMR1     AU-18000chrX:
147030242-147030242
AGexonicInheritednonsynonymous SNVNM_001185076
NM_001185082
NM_002024
c.A1714G
c.A1639G
c.A1777G
p.K572E
p.K547E
p.K593E
16.04-Yu2013 E
FMR1     Marques2022:294chrX:
147009844-147009844
AGexonicnonsynonymous SNVNM_001185075
NM_001185076
NM_001185081
NM_001185082
NM_002024
c.A203G
c.A203G
c.A203G
c.A203G
c.A203G
p.Y68C
p.Y68C
p.Y68C
p.Y68C
p.Y68C
18.12-Marques2022 ET
FMR1     Marques2022:296chrX:
147019617-147019617
GAsplicingsplicing15.990.0011Marques2022 ET
FMR1     Marques2022:295chrX:
147011562-147011562
TCsplicingsplicing15.44-Marques2022 ET
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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