rs181508787 Rat Genome Database

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Variant: rs181508787 -  Homo sapiens

RGD ID: 152126155
RS ID: rs181508787
ClinVar ID: CV1641898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTCH2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 45,291,913
GRCh38 1 44,826,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166292.2:c.3114+9G>C
NM_003738.5:c.3114+9G>C
NG_013369.1:g.21704G>C
NC_000001.11:g.44826241C>G
More... 		05/13/2021 intron variant likely benign Basal cell nevus syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTCH2
Accession:NM_003738
Location:INTRON

Gene Symbol:PTCH2
Accession:NM_001166292
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002176203 CLINVAR
dbSNP (RS) rs181508787 CLINVAR
MedGen C0004779 CLINVAR
NCBI Gene PTCH2 CLINVAR
OMIM 603673 CLINVAR
SNOMED CT 69408002 CLINVAR