RGD:155964773 Rat Genome Database

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Variant: RGD:155964773 -  Homo sapiens

RGD ID: 155964773
ClinVar ID: CV2085529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 65,271,654
GRCh38 14 64,804,936
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t2:c.300+3A>G
NM_001024858.4:c.300+3A>G
NM_001355436.2:c.300+3A>G
NM_001355437.2:c.300+3A>G
More... 		09/13/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002881197 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR