RGD:152061674 Rat Genome Database

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Variant: RGD:152061674 -  Homo sapiens

RGD ID: 152061674
RS ID: rs770594428
ClinVar ID: CV1658302
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  DYNC2LI1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,047,045
GRCh38 2 43,819,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1181t1:c.1649+9T>A
NM_001348912.2:c.*16-7480A>T
NM_001348913.2:c.*16-7480A>T
NM_022436.3:c.1649+9T>A
More...
10/04/2021 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: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_011533028
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 RCV002219939 CLINVAR
dbSNP (RS) rs770594428 CLINVAR
MedGen C0342907 CLINVAR
NCBI Gene ABCG5 CLINVAR
  DYNC2LI1 CLINVAR
OMIM 210250 CLINVAR
  605459 CLINVAR
  617083 CLINVAR
SNOMED CT 238104009 CLINVAR