RGD:152080129 Rat Genome Database

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Variant: RGD:152080129 -  Homo sapiens

RGD ID: 152080129
RS ID: rs2104723353
ClinVar ID: CV1579978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC88A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 55,571,489
GRCh38 2 55,344,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135597.2:c.1188+15G>A
NM_001254943.2:c.1188+15G>A
NM_001365480.1:c.1188+15G>A
NM_018084.5:c.1188+15G>A
More... 		11/13/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CCDC88A
Accession:NM_018084
Location:INTRON

Gene Symbol:CCDC88A
Accession:NM_001254943
Location:INTRON

Gene Symbol:CCDC88A
Accession:NM_001365480
Location:INTRON

Gene Symbol:CCDC88A
Accession:NM_001135597
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002076258 CLINVAR
dbSNP (RS) rs2104723353 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCDC88A CLINVAR
OMIM 609736 CLINVAR