rs200761553 Rat Genome Database

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Variant: rs200761553 -  Homo sapiens

RGD ID: 11552223
RS ID: rs200761553
ClinVar ID: CV253127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 41,561,886
GRCh38 8 41,704,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000037.4:c.2196+6G>A
NM_020475.3:c.2196+6G>A
NM_000037.3:c.2196+6G>A
NC_000008.11:g.41704368C>T
More... 		03/01/2023 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; ANK1-Related Spherocytosis; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Spherocytosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ANK1
Accession:NM_020477
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020478
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020475
Location:INTRON

Gene Symbol:ANK1
Accession:NM_000037
Location:INTRON

Gene Symbol:ANK1
Accession:NM_001142446
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020476
Location:INTRON

Gene Symbol:ANK1
Accession:NM_001142445
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020480
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254082 CLINVAR
  RCV000909219 CLINVAR
  RCV001158388 CLINVAR
  RCV001158389 CLINVAR
dbSNP (RS) rs200761553 CLINVAR
MedGen C0553720 CLINVAR
  C2674218 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANK1 CLINVAR
OMIM 182900 CLINVAR
  612641 CLINVAR