RGD:151351171 Rat Genome Database

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Variant: RGD:151351171 -  Homo sapiens

RGD ID: 151351171
RS ID: rs2139613101
ClinVar ID: CV1323417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 65,264,445
GRCh38 14 64,797,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t1:c.1182+2T>C
LRG_1130t2:c.1182+2T>C
NM_001024858.4:c.1182+2T>C
NM_001355436.2:c.1182+2T>C
More... 		splice donor variant likely pathogenic SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001805745 CLINVAR
dbSNP (RS) rs2139613101 CLINVAR
MedGen C2674219 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR
  616649 CLINVAR