RGD:152103730 Rat Genome Database

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Variant: RGD:152103730 -  Homo sapiens

RGD ID: 152103730
RS ID: rs775507445
ClinVar ID: CV1569816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISCU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 108,959,084
GRCh38 12 108,565,308
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014301.4:c.154-13G>A
NM_001301140.1:c.229-13G>A
NM_001301141.1:c.229-13G>A
NM_001320042.1:c.229-13G>A
More... 		10/14/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ISCU
Accession:NM_213595
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001320042
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001301141
Location:INTRON

Gene Symbol:ISCU
Accession:XM_047428627
Location:INTRON

Gene Symbol:ISCU
Accession:NM_014301
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001301140
Location:INTRON

Gene Symbol:ISCU
Accession:NR_135127
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002195874 CLINVAR
dbSNP (RS) rs775507445 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ISCU CLINVAR
OMIM 611911 CLINVAR