RGD:150468799 Rat Genome Database

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Variant: RGD:150468799 -  Homo sapiens

RGD ID: 150468799
RS ID: rs1331455653
ClinVar ID: CV1207466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 70,220,908
GRCh38 5 70,925,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297715.1:c.-23C>G
NM_022874.2:c.-23C>G
LRG_676:g.5141C>G
NG_008691.1:g.5141C>G
More... 		07/06/2018 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMN1
Accession:XM_011543597
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:XM_017009786
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:NM_022874
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:XM_047417616
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:XM_047417615
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:XM_011543596
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:NM_001297715
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:XM_047417618
Location:5UTRS;EXON

Gene Symbol:SMN1
Accession:NM_000344
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001588155 CLINVAR
dbSNP (RS) rs1331455653 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMN1 CLINVAR
OMIM 600354 CLINVAR