RGD:150409572 Rat Genome Database

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Variant: RGD:150409572 -  Homo sapiens

RGD ID: 150409572
RS ID: rs10781531
ClinVar ID: CV1175343
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 139,908,265
GRCh38 9 137,013,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_212533.3:c.4537+19A>G
NC_000009.11:g.139908265T>C
NG_011789.1:g.20110A>G
NM_001606.5:c.4447+19A>G
More... 		07/14/2021 intron variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCA2
Accession:NM_001411042
Location:INTRON

Gene Symbol:ABCA2
Accession:NM_001606
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ABCA2
Accession:XM_047422921
Location:INTRON

Gene Symbol:ABCA2
Accession:NM_212533
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001544139 CLINVAR
  RCV001647399 CLINVAR
dbSNP (RS) rs10781531 CLINVAR
MedGen C3661900 CLINVAR
  C5394135 CLINVAR
NCBI Gene ABCA2 CLINVAR
OMIM 600047 CLINVAR
  618808 CLINVAR