RGD:156131233 Rat Genome Database

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Variant: RGD:156131233 -  Homo sapiens

RGD ID: 156131233
ClinVar ID: CV2116864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  DYNC2LI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,053,504
GRCh38 2 43,826,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1181t1:c.774+17G>A
NM_001348912.2:c.*16-1021C>T
NM_001348913.2:c.*16-1021C>T
NM_022436.3:c.774+17G>A
More... 		04/28/2022 intron variant likely benign Phytosterolemia; Plant sterol storage disease; Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
Disease Annotations     Click to see Annotation Detail View
sitosterolemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:DYNC2LI1
Accession:NM_001348913
Location:3UTRS;INTRON

Gene Symbol:DYNC2LI1
Accession:NM_001348912
Location:3UTRS;INTRON

Gene Symbol:ABCG5
Accession:XM_011533028
Location:5UTRS;INTRON

Gene Symbol:DYNC2LI1
Accession:NM_016008
Location:INTRON

Gene Symbol:DYNC2LI1
Accession:NM_015522
Location:INTRON

Gene Symbol:DYNC2LI1
Accession:NM_001193464
Location:INTRON

Gene Symbol:ABCG5
Accession:NM_022436
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_005264480
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_006712073
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_006712074
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533025
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533027
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533026
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_011533024
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445410
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445409
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445411
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002928207 CLINVAR
MedGen C0342907 CLINVAR
NCBI Gene ABCG5 CLINVAR
  DYNC2LI1 CLINVAR
OMIM 210250 CLINVAR
  605459 CLINVAR
  617083 CLINVAR
SNOMED CT 238104009 CLINVAR