RGD:11586952 Rat Genome Database

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Variant: RGD:11586952 -  Homo sapiens

RGD ID: 11586952
RS ID: rs77105521
ClinVar ID: CV286307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  DYNC2LI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,039,733
GRCh38 2 43,812,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008883.1:g.31226G>A
NC_000002.12:g.43812594C>T
NC_000002.11:g.44039733C>T
NM_001348912.2:c.*15+2070C>T
More...
01/13/2018 3 prime utr variant benign|likely benign all ages <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCG5
Accession:NM_022436
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_005264480
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533025
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533027
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533026
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533024
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_011533028
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_047445409
Location:3UTRS;EXON

Gene Symbol:ABCG5
Accession:XM_047445411
Location:3UTRS;EXON

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:XM_006712073
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_006712074
Location:INTRON

Gene Symbol:ABCG5
Accession:XM_047445410
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000291765 CLINVAR
dbSNP (RS) rs77105521 CLINVAR
MedGen C2749759 CLINVAR
NCBI Gene ABCG5 CLINVAR
  DYNC2LI1 CLINVAR
OMIM 210250 CLINVAR
  605459 CLINVAR
  617083 CLINVAR