RGD:12842359 Rat Genome Database

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Variant: RGD:12842359 -  Homo sapiens

RGD ID: 12842359
RS ID: rs75180479
ClinVar ID: CV371402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MICU1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 74,167,811
GRCh38 10 72,408,053
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363513.2:c.1090-16G>A
NG_033179.1:g.223139G>A
NC_000010.11:g.72408053C>T
NC_000010.10:g.74167811C>T
More... 		03/17/2016 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MICU1
Accession:NM_006077
Location:INTRON

Gene Symbol:MICU1
Accession:NM_001195518
Location:INTRON

Gene Symbol:MICU1
Accession:NM_001195519
Location:INTRON

Gene Symbol:MICU1
Accession:XM_011539119
Location:INTRON

Gene Symbol:MICU1
Accession:NM_001363513
Location:INTRON

Gene Symbol:MICU1
Accession:XM_047424441
Location:INTRON

Gene Symbol:MICU1
Accession:XM_047424440
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000434259 CLINVAR
  RCV002064926 CLINVAR
dbSNP (RS) rs75180479 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MICU1 CLINVAR
OMIM 605084 CLINVAR