RGD:15158661 Rat Genome Database

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Variant: RGD:15158661 -  Homo sapiens

RGD ID: 15158661
RS ID: rs368421971
ClinVar ID: CV690241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126653391  RSPH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 43,913,197
GRCh38 21 42,493,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_080860.3:c.55-8T>C
NM_001286506.2:c.55-224T>C
NM_080860.4:c.55-8T>C
NG_034257.1:g.8268T>C
More... 		06/04/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPH1
Accession:NM_080860
Location:INTRON

Gene Symbol:RSPH1
Accession:NM_001286506
Location:INTRON

Gene Symbol:RSPH1
Accession:XM_011529786
Location:INTRON

Gene Symbol:RSPH1
Accession:XM_005261208
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003537317 CLINVAR
  RCV003948147 CLINVAR
dbSNP (RS) rs368421971 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene LOC126653391 CLINVAR
  RSPH1 CLINVAR
OMIM 609314 CLINVAR