RGD:8559851 Rat Genome Database

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Variant: RGD:8559851 -  Homo sapiens

RGD ID: 8559851
RS ID: rs267606867
ClinVar ID: CV22381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HR  HRURF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 21,988,215
GRCh38 8 22,130,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_018411.4:c.-315C>T
NG_008166.1:g.4816C>T
NC_000008.11:g.22130702G>A
NC_000008.10:g.21988215G>A
More... 		10/05/2012 5 prime utr variant|utr-5 pathogenic neonatal/infancy HYPOTRICHOSIS, MARIE UNNA TYPE, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HR
Accession:NM_018411
Location:5UTRS;EXON

Gene Symbol:HR
Accession:NM_005144
Location:5UTRS;EXON

Gene Symbol:HRURF
Accession:NM_001394132
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MA*PTASAQKLVRPIRAVCRILQIPESDPSNLRP*
Variant Samples
Additional References at PubMed
PMID:10777357   PMID:19122663  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001353148 CLINVAR
dbSNP (RS) rs267606867 CLINVAR
MedGen C2750815 CLINVAR
NCBI Gene HR CLINVAR
  HRURF CLINVAR
OMIM 146550 CLINVAR
  602302 CLINVAR
  619257 CLINVAR
OMIM Allele 619257.0002 CLINVAR