RGD:15168719 Rat Genome Database

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Variant: RGD:15168719 -  Homo sapiens

RGD ID: 15168719
RS ID: rs139279813
ClinVar ID: CV780178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPAMD8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 17,111,216
GRCh38 19 17,000,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015692.5:c.867+8A>G
NG_054892.1:g.31413A>G
NC_000019.10:g.17000406T>C
NC_000019.9:g.17111216T>C
More... 		04/30/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CPAMD8
Accession:XM_011527918
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527925
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527919
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_047438613
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527922
Location:INTRON

Gene Symbol:CPAMD8
Accession:NM_015692
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527920
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527917
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527921
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527923
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_017026594
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_011527924
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_047438612
Location:INTRON

Gene Symbol:CPAMD8
Accession:XM_047438614
Location:INTRON

Gene Symbol:CPAMD8
Accession:NR_147452
Location:INTRON;NON-CODING

Gene Symbol:CPAMD8
Accession:NR_165644
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971672 CLINVAR
dbSNP (RS) rs139279813 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CPAMD8 CLINVAR
OMIM 608841 CLINVAR