RGD:150410110 Rat Genome Database

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Variant: RGD:150410110 -  Homo sapiens

RGD ID: 150410110
RS ID: rs4880185
ClinVar ID: CV1175337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 139,902,712
GRCh38 9 137,008,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.139902712A>G
NM_001606.5:c.7275+156T>C
NM_212533.3:c.7365+156T>C
NC_000009.12:g.137008260A>G
More... 		07/14/2021 intron variant benign
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:ABCA2
Accession:NM_001606
Location:INTRON

Gene Symbol:ABCA2
Accession:NM_001411042
Location:INTRON

Gene Symbol:ABCA2
Accession:NM_212533
Location:INTRON

Gene Symbol:ABCA2
Accession:XM_047422921
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001544496 CLINVAR
dbSNP (RS) rs4880185 CLINVAR
MedGen C5394135 CLINVAR
NCBI Gene ABCA2 CLINVAR
OMIM 600047 CLINVAR
  618808 CLINVAR