RGD:150442216 Rat Genome Database

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Variant: RGD:150442216 -  Homo sapiens

RGD ID: 150442216
RS ID: rs10186552
ClinVar ID: CV1265901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  DYNC2LI1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 44,036,922
GRCh38 2 43,809,783
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193464.2:c.*16T>C
NM_016008.4:c.*16T>C
NM_001348912.2:c.994-598T>C
NM_001348913.2:c.997-598T>C
More...
05/11/2021 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DYNC2LI1
Accession:NM_016008
Location:3UTRS;EXON

Gene Symbol:DYNC2LI1
Accession:NM_001193464
Location:3UTRS;EXON

Gene Symbol:DYNC2LI1
Accession:NM_015522
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:DYNC2LI1
Accession:NM_001348913
Location:INTRON

Gene Symbol:DYNC2LI1
Accession:NM_001348912
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 Information

Database Acc Id Source(s)
ClinVar RCV001690626 CLINVAR
dbSNP (RS) rs10186552 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCG5 CLINVAR
  DYNC2LI1 CLINVAR
OMIM 605459 CLINVAR
  617083 CLINVAR