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Results for "SLC46A3"

Variant Events: 32

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
SLC46A3     2-1620-004chr13:
29335962-29335962
CAintergenicDe novo--Yuen2017 G
SLC46A3     2-1255-003chr13:
29438842-29438842
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC46A3     AU3849303chr13:
29543379-29543379
GCintergenicDe novo--Trost2022 G
Yuen2017 G
SLC46A3     1-0269-005chr13:
29323450-29323450
TCintergenicDe novo--Yuen2017 G
SLC46A3     AU3809302chr13:
29394568-29394568
CGintergenicDe novo--Trost2022 G
Yuen2017 G
SLC46A3     mAGRE1889chr13:
29287262-29287262
CCAexonicPaternalframeshift insertionNM_001135919
NM_181785
c.614dupT
c.614dupT
p.V205fs
p.V205fs
-1.66E-5Cirnigliaro2023 G
SLC46A3     AU1308303chr13:
29287262-29287262
CCAexonicPaternalframeshift insertionNM_001135919
NM_181785
c.614dupT
c.614dupT
p.V205fs
p.V205fs
-1.66E-5Cirnigliaro2023 G
SLC46A3     mAGRE5503chr13:
29284896-29284896
CAsplicingMaternalsplicing22.43.301E-5Cirnigliaro2023 G
SLC46A3     mAGRE1103chr13:
29275669-29275669
GAexonicPaternalstopgainNM_001135919
NM_181785
c.C1351T
c.C1351T
p.Q451X
p.Q451X
36.01.653E-5Cirnigliaro2023 G
SLC46A3     7-0143-003chr13:
29395746-29395746
AGintergenicDe novo--Trost2022 G
Yuen2017 G
SLC46A3     AU071203chr13:
29293166-29293166
GTupstreamDe novo--Trost2022 G
Yuen2017 G
SLC46A3     3-0459-000chr13:
29440294-29440294
CGintergenicDe novo--Trost2022 G
SLC46A3     5-0068-003chr13:
29442795-29442795
ACintergenicDe novo--Trost2022 G
SLC46A3     MSSNG00365-003chr13:
29394030-29394030
CGintergenicDe novo--Trost2022 G
SLC46A3     MSSNG00183-003chr13:
29410171-29410171
TCintergenicDe novo--Trost2022 G
SLC46A3     MSSNG00254-003chr13:
29281456-29281456
AGintronicDe novo--Trost2022 G
SLC46A3     SJD_58.4chr13:
29285958-29285958
AGintronicDe novo--Trost2022 G
SLC46A3     7-0192-003chr13:
29535811-29535811
GAintergenicDe novo--Trost2022 G
Yuen2017 G
SLC46A3     AU4024303chr13:
29349703-29349703
TCintergenicDe novo--Yuen2017 G
SLC46A3     AU2442301chr13:
29551765-29551765
CTintergenicDe novo--Trost2022 G
SLC46A3     iHART1890chr13:
29287262-29287262
CCAexonicPaternalframeshift insertionNM_001135919
NM_181785
c.614dupT
c.614dupT
p.V205fs
p.V205fs
-1.66E-5Ruzzo2019 G
SLC46A3     7-0288-004chr13:
29552351-29552351
CTintergenicDe novo--Trost2022 G
SLC46A3     4-0075-003chr13:
29538871-29538875
AGAAGGCGCCCGGCCintergenicDe novo--Trost2022 G
SLC46A3     2-1505-004chr13:
29538871-29538875
AGAAGCCGCGCCCGGCCintergenicDe novo--Trost2022 G
SLC46A3     7-0470-003chr13:
29515931-29515931
GAintergenicDe novo--Trost2022 G
SLC46A3     MSSNG00338-004chr13:
29533050-29533050
ATintergenicDe novo--Trost2022 G
SLC46A3     1-0546-003chr13:
29380739-29380739
CTintergenicDe novo--Yuen2017 G
SLC46A3     iHART1889chr13:
29287262-29287262
CCAexonicPaternalframeshift insertionNM_001135919
NM_181785
c.614dupT
c.614dupT
p.V205fs
p.V205fs
-1.66E-5Ruzzo2019 G
SLC46A3     REACH000078chr13:
29510761-29510761
GAintergenicDe novo--Trost2022 G
SLC46A3     74-0358chr13:
29286840-29286840
CTexonicInheritednonsynonymous SNVNM_001135919
NM_181785
c.G1037A
c.G1037A
p.S346N
p.S346N
7.242-Patowary2019 E
SLC46A3     iHART1103chr13:
29275669-29275669
GAexonicPaternalstopgainNM_001135919
NM_181785
c.C1351T
c.C1351T
p.Q451X
p.Q451X
36.01.653E-5Ruzzo2019 G
SLC46A3     3-0719-001chr13:
29511676-29511676
GAintergenicDe 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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