RGD:126773112 Rat Genome Database

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Variant: RGD:126773112 -  Homo sapiens

RGD ID: 126773112
RS ID: rs745785626
ClinVar ID: CV1024509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 44,065,817
GRCh38 2 43,838,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1181t1:c.2T>C
NM_022436.3:c.2T>C
LRG_1181:g.5142T>C
LRG_1182:g.11737A>G
More... 		09/01/2021 initiatior codon variant|initiator_codon_variant uncertain significance 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:ABCG5
Accession:XM_047445410
Location:5UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533025
Location:5UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533027
Location:5UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_047445411
Location:5UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_047445409
Location:5UTRS;INTRON

Gene Symbol:ABCG5
Accession:XM_005264480
Location:EXON

Gene Symbol:ABCG5
Accession:XM_011533024
Location:EXON

Gene Symbol:ABCG5
Accession:NM_022436
Location:EXON

Gene Symbol:ABCG5
Accession:XM_006712073
Location:EXON

Gene Symbol:ABCG5
Accession:XM_006712074
Location:EXON

Gene Symbol:ABCG5
Accession:XM_011533026
Location:EXON

Gene Symbol:ABCG5
Accession:XM_011533028
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001346003 CLINVAR
dbSNP (RS) rs745785626 CLINVAR
MedGen C0342907 CLINVAR
NCBI Gene ABCG5 CLINVAR
OMIM 210250 CLINVAR
  605459 CLINVAR
SNOMED CT 238104009 CLINVAR