RGD:11650172 Rat Genome Database

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Variant: RGD:11650172 -  Homo sapiens

RGD ID: 11650172
RS ID: rs886062804
ClinVar ID: CV304815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HR  LOC127458858  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 21,973,028
GRCh38 8 22,115,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005144.4:c.*185C>G
NG_008166.1:g.20003C>G
NC_000008.11:g.22115515G>C
NC_000008.10:g.21973028G>C
More... 		01/13/2018 3 prime utr variant 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 RCV000291276 CLINVAR
  RCV000393489 CLINVAR
dbSNP (RS) rs886062804 CLINVAR
MedGen C1859592 CLINVAR
  C1859877 CLINVAR
NCBI Gene HR CLINVAR
OMIM 203655 CLINVAR
  209500 CLINVAR
  602302 CLINVAR