RGD:11604639 Rat Genome Database

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Variant: RGD:11604639 -  Homo sapiens

RGD ID: 11604639
RS ID: rs150850103
ClinVar ID: CV309110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 41,552,686
GRCh38 8 41,695,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.41695168C>T
NC_000008.10:g.41552686C>T
NM_020475.3:c.3115+9G>A
NM_020476.3:c.3115+9G>A
More... 		10/17/2021 intron variant benign|likely benign|uncertain significance ANK1-Related Spherocytosis; none provided
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_020480
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020478
Location:INTRON

Gene Symbol:ANK1
Accession:NM_001142446
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020475
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020476
Location:INTRON

Gene Symbol:ANK1
Accession:NM_001142445
Location:INTRON

Gene Symbol:ANK1
Accession:NM_020477
Location:INTRON

Gene Symbol:ANK1
Accession:NM_000037
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000311563 CLINVAR
  RCV000971000 CLINVAR
  RCV001164984 CLINVAR
dbSNP (RS) rs150850103 CLINVAR
MedGen C0553720 CLINVAR
  C2674218 CLINVAR
  C3661900 CLINVAR
NCBI Gene ANK1 CLINVAR
OMIM 182900 CLINVAR
  612641 CLINVAR