RGD:15112100 Rat Genome Database

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Variant: RGD:15112100 -  Homo sapiens

RGD ID: 15112100
RS ID: rs1365627360
ClinVar ID: CV776022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 69,371,362
GRCh38 14 68,904,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130005.2:c.676+10G>A
NG_029480.1:g.79722G>A
NC_000014.9:g.68904645C>T
NC_000014.8:g.69371362C>T
More... 		07/12/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACTN1
Accession:NM_001424030
Location:5UTRS;INTRON

Gene Symbol:ACTN1
Accession:NM_001130005
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001102
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001130004
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_011537266
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_011537265
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_011537268
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021723
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021722
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021726
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021725
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021721
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_017021720
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_047431830
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_047431829
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACTN1
Accession:XM_047431832
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001411035
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001411036
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424029
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424027
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424025
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424019
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424024
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424023
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424014
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424012
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424016
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424013
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424022
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424020
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424018
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424026
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424021
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424017
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424028
Location:INTRON

Gene Symbol:ACTN1
Accession:NM_001424015
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000938876 CLINVAR
dbSNP (RS) rs1365627360 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACTN1 CLINVAR
OMIM 102575 CLINVAR