rs1361354647 Rat Genome Database

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Variant: rs1361354647 -  Homo sapiens

RGD ID: 28907410
RS ID: rs1361354647
ClinVar ID: CV899556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANK1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 41,512,898
GRCh38 8 41,655,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020480.5:c.*348C>G
NM_000037.4:c.*411C>G
NM_020478.5:c.*411C>G
NG_012820.2:g.246384C>G
More... 		01/12/2018 3 prime utr variant uncertain significance ANK1-Related Spherocytosis
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_001142445
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_001142446
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_020477
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_020476
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_000037
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_020480
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_020478
Location:3UTRS;EXON

Gene Symbol:ANK1
Accession:NM_020475
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159514 CLINVAR
  RCV001159515 CLINVAR
dbSNP (RS) rs1361354647 CLINVAR
MedGen C0553720 CLINVAR
  C2674218 CLINVAR
NCBI Gene ANK1 CLINVAR
OMIM 182900 CLINVAR
  612641 CLINVAR