or
or
Exact

Results for "SLC24A1"

Variant Events: 9

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
SLC24A1     1-0508-003chr15:
65945025-65945025
AGexonicDe novononsynonymous SNVNM_001254740
NM_001301031
NM_001301032
NM_004727
NM_001301033
c.A910G
c.A2839G
c.A2875G
c.A2929G
c.A2875G
p.I304V
p.I947V
p.I959V
p.I977V
p.I959V
17.77-Yuen2017 G
SLC24A1     AU4072303chr15:
65921405-65921405
ACintronicDe novo--Yuen2017 G
SLC24A1     1-0914-003chr15:
65931036-65931036
TGintronicDe novo--Yuen2017 G
SLC24A1     NDAR_INVBX440FDB_wes1chr15:
65918236-65918236
CGexonicDe novononsynonymous SNVNM_001301031
NM_001301032
NM_004727
NM_001301033
c.C1818G
c.C1818G
c.C1818G
c.C1818G
p.I606M
p.I606M
p.I606M
p.I606M
8.661-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC24A1     SP0022360chr15:
65942794-65942799
TGAAGATexonicDe novoframeshift deletionNM_001254740
NM_001301032
NM_001301031
NM_004727
NM_001301033
c.289_293del
c.2254_2258del
c.2308_2312del
c.2308_2312del
c.2254_2258del
p.E97fs
p.E752fs
p.E770fs
p.E770fs
p.E752fs
--Feliciano2019 E
SLC24A1     13438.p1chr15:
65917219-65917219
CTexonicDe novosynonymous SNVNM_001301031
NM_001301032
NM_004727
NM_001301033
c.C801T
c.C801T
c.C801T
c.C801T
p.N267N
p.N267N
p.N267N
p.N267N
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SLC24A1     14102.p1chr15:
65942737-65942737
CTexonicDe novosynonymous SNVNM_001254740
NM_001301032
NM_001301031
NM_004727
NM_001301033
c.C231T
c.C2196T
c.C2250T
c.C2250T
c.C2196T
p.A77A
p.A732A
p.A750A
p.A750A
p.A732A
-4.913E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SLC24A1     SSC10904chr15:
65942737-65942737
CTexonicDe novosynonymous SNVNM_001254740
NM_001301032
NM_001301031
NM_004727
NM_001301033
c.C231T
c.C2196T
c.C2250T
c.C2250T
c.C2196T
p.A77A
p.A732A
p.A750A
p.A750A
p.A732A
-4.913E-5Lim2017 E
SLC24A1     AU015903chr15:
65924431-65924431
GAintronicDe novo--Yuen2017 G
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
More