RGD:34892691 Rat Genome Database

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Variant: RGD:34892691 -  Homo sapiens

RGD ID: 34892691
RS ID: rs1221801902
ClinVar ID: CV915951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,771,378
GRCh38 16 68,737,475
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_301:g.5184C>G
NM_001317184.2:c.48+12C>G
NM_004360.5:c.48+12C>G
NC_000016.9:g.68771378C>G
More... 		03/11/2019 intron variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317186
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001175955 CLINVAR
dbSNP (RS) rs1221801902 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 192090 CLINVAR
SNOMED CT 699346009 CLINVAR