RGD:14704218 Rat Genome Database

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Variant: RGD:14704218 -  Homo sapiens

RGD ID: 14704218
RS ID: rs12721481
ClinVar ID: CV654493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADCY1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 45,753,597
GRCh38 7 45,713,998
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021116.2:c.*3G>T
NC_000007.14:g.45713998G>T
LRG_1172:g.144859G>T
NM_021116.4:c.*3G>T
More... 		03/19/2019 3 prime utr variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ADCY1
Accession:NM_021116
Location:3UTRS;EXON

Gene Symbol:ADCY1
Accession:XM_005249584
Location:3UTRS;EXON

Gene Symbol:ADCY1
Accession:XM_005249585
Location:INTRON

Gene Symbol:ADCY1
Accession:NM_001281768
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000825658 CLINVAR
  RCV001637994 CLINVAR
dbSNP (RS) rs12721481 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ADCY1 CLINVAR
OMIM 103072 CLINVAR