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Results for "SLC47A2"

Variant Events: 10

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
SLC47A2     iHART2103chr17:
19582132-19582133
GCGexonicPaternalframeshift deletionNM_001099646
NM_152908
NM_001256663
c.1567delG
c.1675delG
c.1609delG
p.A523fs
p.A559fs
p.A537fs
--Ruzzo2019 G
SLC47A2     AU3857301chr17:
19625327-19625327
TAintergenicDe novo--Yuen2017 G
SLC47A2     5-0025-004chr17:
19615885-19615885
TAintronicDe novo--Yuen2017 G
SLC47A2     AU4149301chr17:
19583283-19583283
TAexonicDe novostopgainNM_001099646
NM_152908
NM_001256663
c.A1462T
c.A1570T
c.A1504T
p.K488X
p.K524X
p.K502X
29.7-Yuen2017 G
SLC47A2     12784.p1chr17:
19584847-19584847
AGintronicMosaic, De novo--Dou2017 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC47A2     1-0112-004chr17:
19607122-19607122
GCintronicDe novo--Yuen2017 G
SLC47A2     1-0558-003chr17:
19635325-19635327
TCCTCintergenicDe novo--Yuen2017 G
SLC47A2     2-1215-003chr17:
19604579-19604579
TGintronicDe novo--Yuen2017 G
SLC47A2     12020.p1chr17:
19617328-19617328
GCintronicDe novo--Satterstrom2020 E
SLC47A2     13143.p1chr17:
19622509-19622509
CAintergenicDe novo--Wilfert2021 G
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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