RGD:28888142 Rat Genome Database

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Variant: RGD:28888142 -  Homo sapiens

RGD ID: 28888142
RS ID: rs139797540
ClinVar ID: CV865007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 158,609,648
GRCh38 1 158,639,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011474.1:g.51859C>T
NC_000001.11:g.158639858G>A
NC_000001.10:g.158609648G>A
NM_003126.4:c.4875+12C>T
More... 		12/23/2023 intron variant benign|likely benign|uncertain significance ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE; none provided; Pyropoikilocytosis; SPTA1-Related Spherocytosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SPTA1
Accession:XM_011509916
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509918
Location:INTRON

Gene Symbol:SPTA1
Accession:NM_003126
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_047428883
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509917
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509919
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_047428888
Location:INTRON

Gene Symbol:SPTA1
Accession:XR_921911
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001098995 CLINVAR
  RCV001098996 CLINVAR
  RCV001098997 CLINVAR
  RCV002554931 CLINVAR
dbSNP (RS) rs139797540 CLINVAR
MedGen C0520739 CLINVAR
  C1851741 CLINVAR
  C2678338 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPTA1 CLINVAR
OMIM 130600 CLINVAR
  182860 CLINVAR
  266140 CLINVAR
  270970 CLINVAR