RGD:26891899 Rat Genome Database

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Variant: RGD:26891899 -  Homo sapiens

RGD ID: 26891899
RS ID: rs536081800
ClinVar ID: CV826482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG5  DYNC2LI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,050,062
GRCh38 2 43,822,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001348913.2:c.*16-4463C>T
NG_053008.1:g.53885C>T
LRG_1181t1:c.1337G>A
NC_000002.12:g.43822923C>T
More...
11/30/2020 intron variant likely pathogenic|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


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:NM_022436
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQ
IMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSK
RVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFL
LFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFK
IISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIV
VFKIRDHLISR*

Gene Symbol:ABCG5
Accession:XM_005264480
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQ
IMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSK
RVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFL
LFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRQLKCFCDN*

Gene Symbol:ABCG5
Accession:XM_006712073
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQ
IMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSK
RVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFL
LFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFK
IISYFTFQKYCSEILVVNEFYGLNFTCAPEGEY*

Gene Symbol:ABCG5
Accession:XM_011533025
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNP
GSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARR
NRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKR
VQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLL
FFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMI
FSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKI
ISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVV
FKIRDHLISR*

Gene Symbol:ABCG5
Accession:XM_011533027
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARRNRIVVLTIHQ
PRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKK
SAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNV
LKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLG
LHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYC
SEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
*

Gene Symbol:ABCG5
Accession:XM_011533026
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQ
IMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPMDLTSVDTQSKEREIETSKRVQMIESAYK
KSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSN
VLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTL
GLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKY
CSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLIS
R*

Gene Symbol:ABCG5
Accession:XM_011533024
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQ
IMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGN
PGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSK
RVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMVPVL
LAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQ
NPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQG
IQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR*

Gene Symbol:ABCG5
Accession:XM_011533028
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTK
DSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAV
NLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLV
LLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPM
CAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR*

Gene Symbol:ABCG5
Accession:XM_047445410
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNP
GSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPMDLTSVDTQSKEREIETSKRVQMIESAYKK
SAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNV
LKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLG
LHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYC
SEILVVNEFYGLNFTCAPEGEY*

Gene Symbol:ABCG5
Accession:XM_047445409
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNP
GSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARR
NRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKR
VQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLL
FFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMI
FSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKI
ISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVV
FKIRDHLISR*

Gene Symbol:ABCG5
Accession:XM_047445411
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNP
GSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPMDLTSVDTQSKEREIETSKRVQMIESAYKK
SAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNV
LKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLLAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLG
LHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRQLKCFCDN*

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_006712074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:32166861  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001046676 CLINVAR
  RCV002468121 CLINVAR
dbSNP (RS) rs536081800 CLINVAR
MedGen C0342907 CLINVAR
  C5231453 CLINVAR
NCBI Gene ABCG5 CLINVAR
  DYNC2LI1 CLINVAR
OMIM 210250 CLINVAR
  605459 CLINVAR
  617083 CLINVAR
  618666 CLINVAR
SNOMED CT 238104009 CLINVAR