RGD:28896331 Rat Genome Database

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Variant: RGD:28896331 -  Homo sapiens

RGD ID: 28896331
RS ID: rs369937649
ClinVar ID: CV865014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 158,647,473
GRCh38 1 158,677,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003126.4:c.957+7C>T
LRG_1131:g.14034C>T
NG_011474.1:g.14034C>T
NC_000001.11:g.158677683G>A
More... 		01/13/2018 intron variant uncertain significance ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE; 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_011509918
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509919
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_047428883
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_047428888
Location:INTRON

Gene Symbol:SPTA1
Accession:NM_003126
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509917
Location:INTRON

Gene Symbol:SPTA1
Accession:XM_011509916
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001102167 CLINVAR
  RCV001102168 CLINVAR
  RCV001102169 CLINVAR
dbSNP (RS) rs369937649 CLINVAR
MedGen C0520739 CLINVAR
  C1851741 CLINVAR
  C2678338 CLINVAR
NCBI Gene SPTA1 CLINVAR
OMIM 130600 CLINVAR
  182860 CLINVAR
  266140 CLINVAR
  270970 CLINVAR