RGD:405053718 Rat Genome Database

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Variant: RGD:405053718 -  Homo sapiens

RGD ID: 405053718
ClinVar ID: CV3047177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTCH2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,294,989
GRCh38 1 44,829,317
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.1216-5C>G
NM_003738.5:c.1216-5C>G
NG_013369.1:g.18628C>G
NC_000001.11:g.44829317G>C
More... 		04/11/2023 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_001166292
Location:INTRON

Gene Symbol:PTCH2
Accession:NM_003738
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003610765 CLINVAR
MedGen C0004779 CLINVAR
NCBI Gene PTCH2 CLINVAR
OMIM 603673 CLINVAR
SNOMED CT 69408002 CLINVAR