RGD:10407781 Rat Genome Database

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Variant: RGD:10407781 -  Homo sapiens

RGD ID: 10407781
ClinVar ID: CV205565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,905,914
GRCh38 21 42,485,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_034257.1:g.15551G>A
NC_000021.9:g.42485804C>T
NC_000021.8:g.43905914C>T
NM_080860.2:c.366G>A
More... 		09/03/2015 synonymous variant pathogenic neonatal 1-5 / 10 000 CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; Dextrocardia bronchiectasis and sinusitis; IMMOTILE CILIA SYNDROME; POLYNESIAN BRONCHIECTASIS; Siewert syndrome

Variant Details
Variant Transcripts
Gene Symbol:RSPH1
Accession:XM_005261208
Location:INTRON

Gene Symbol:RSPH1
Accession:XM_011529786
Location:INTRON

Gene Symbol:RSPH1
Accession:NM_001286506
Location:INTRON

Gene Symbol:RSPH1
Accession:NM_080860
Location:INTRON

Variant Samples