RGD:11601033 Rat Genome Database

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Variant: RGD:11601033 -  Homo sapiens

RGD ID: 11601033
RS ID: rs564636595
ClinVar ID: CV308544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 21,972,319
GRCh38 8 22,114,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018411.4:c.*894G>A
NM_005144.4:c.*894G>A
NM_005144.5:c.*894G>A
NC_000008.10:g.21972319C>T
More...
01/12/2018 3 prime utr variant likely benign|uncertain significance ATRICHIA, GENERALIZED; Papular Atrichia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HR
Accession:NM_018411
Location:3UTRS;EXON

Gene Symbol:HR
Accession:NM_005144
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278761 CLINVAR
  RCV000392382 CLINVAR
dbSNP (RS) rs564636595 CLINVAR
MedGen C1859592 CLINVAR
  C1859877 CLINVAR
NCBI Gene HR CLINVAR
OMIM 203655 CLINVAR
  209500 CLINVAR
  602302 CLINVAR