RGD:12835324 Rat Genome Database

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Variant: RGD:12835324 -  Homo sapiens

RGD ID: 12835324
RS ID: rs770808877
ClinVar ID: CV372505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISCU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 108,959,221
GRCh38 12 108,565,445
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.264+14C>T
NG_011857.1:g.7928C>T
NC_000012.12:g.108565445C>T
NC_000012.11:g.108959221C>T
More... 		01/05/2017 intron variant likely benign AllHighlyPenetrant

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_001301140
Location:INTRON

Gene Symbol:ISCU
Accession:NM_014301
Location:INTRON

Gene Symbol:ISCU
Accession:XM_047428627
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001301141
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000421474 CLINVAR
dbSNP (RS) rs770808877 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ISCU CLINVAR
OMIM 611911 CLINVAR