RGD:156198613 Rat Genome Database

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Variant: RGD:156198613 -  Homo sapiens

RGD ID: 156198613
ClinVar ID: CV2365143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB4  CROT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 87,020,981
GRCh38 7 87,391,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021151.4:c.1378G>C
NM_001143935.2:c.1462G>C
NG_007118.3:g.89362C>G
NC_000007.14:g.87391665G>C
More... 		08/16/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CROT
Accession:NM_021151
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENQLAKSTEERTFQYQDSLPSLPVPSLEESLKKYLESVKPFANQEEYKKTEEIVQKFQSGIGEKLHQKLLERAKGKRNW
LEEWWLNVAYLDVRIPSQLNVNFAGPAAHFEHYWPPKEGTQLERGSITLWHNLNYWQLLRKEKVPVHKVGNTPLDMNQFR
MLFSTCKVPGITRDSIMNYFRTESEGRSPNHIVVLCRGRAFVFDVIHEGCLVTPPELLRQLTYIHKKCHSEPDGPGIAAL
TSEERTRWAKAREYLIGLDPENLALLEKIQSSLLVYSMEDSSPHVTPEDYSEIIAAILIGDPTVRWGDKSYNLISFSNGV
FGCNCDHAPFDAMIMVNISYYVDEKIFQNEGRWKGSEKVRDIPLPEELIFIVDEKVLNDINQAKAQYLREASDLQIAAYA
FTSFGKKLTKNKMLHPDTFIQLALQLAYYRLHGHPGCCYETAMTRHFYHGRTETMRSCTLEAVRWCQSMQDPSVNLRERQ
QKMLQAFAKHNKMMKDCSAGKGFDRHLLGLLLIAKEEGLPVPELFTDPLFSKSGGGGNFVLSTSLVGYLRVQGVVVPMVH
NGYGFFYHIRDDRFVVACSAWKSCPETDAEKLVQLTFCAFHDMIQLMNSTHL*

Gene Symbol:CROT
Accession:NM_001143935
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENQLAKSTEERTFQYQDSLPSLPVPSLEESLKKYLESVTRTCYQIRGLDPDAKRGFLDLTREGIQVKPFANQEEYKKTE
EIVQKFQSGIGEKLHQKLLERAKGKRNWLEEWWLNVAYLDVRIPSQLNVNFAGPAAHFEHYWPPKEGTQLERGSITLWHN
LNYWQLLRKEKVPVHKVGNTPLDMNQFRMLFSTCKVPGITRDSIMNYFRTESEGRSPNHIVVLCRGRAFVFDVIHEGCLV
TPPELLRQLTYIHKKCHSEPDGPGIAALTSEERTRWAKAREYLIGLDPENLALLEKIQSSLLVYSMEDSSPHVTPEDYSE
IIAAILIGDPTVRWGDKSYNLISFSNGVFGCNCDHAPFDAMIMVNISYYVDEKIFQNEGRWKGSEKVRDIPLPEELIFIV
DEKVLNDINQAKAQYLREASDLQIAAYAFTSFGKKLTKNKMLHPDTFIQLALQLAYYRLHGHPGCCYETAMTRHFYHGRT
ETMRSCTLEAVRWCQSMQDPSVNLRERQQKMLQAFAKHNKMMKDCSAGKGFDRHLLGLLLIAKEEGLPVPELFTDPLFSK
SGGGGNFVLSTSLVGYLRVQGVVVPMVHNGYGFFYHIRDDRFVVACSAWKSCPETDAEKLVQLTFCAFHDMIQLMNSTHL
*

Gene Symbol:CROT
Accession:XM_011516337
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENQLAKSTEERTFQYQDSLPSLPVPSLEESLKKYLESVKPFANQEEYKKTEEIVQKFQSGIGEKLHQKLLERAKGKRNW
LEEWWLNVAYLDVRIPSQLNVNFAGPAAHFEHYWPPKEGTQLERGSITLWHNLNYWQLLRKEKVPVHKVGNTPLDMNQFR
MLFSTCKVPGITRDSIMNYFRTESEGRSPNHIVVLCRGRAFVFDVIHEGCLVTPPELLRQLTYIHKKCHSEPDGPGIAAL
TSEERTRWAKAREYLIGLDPENLALLEKIQSSLLVYSMEDSSPHVTPEDYSEIIAAILIGDPTVRWGDKSYNLISFSNGV
FGCNCDHAPFDAMIMVNISYYVDEKIFQNEGRWKGSEKVRDIPLPEELIFIVDEKVLNDINQAKAQYLREASDLQIAAYA
FTSFGKKLTKNKMLHPDTFIQLALQLAYYRLHGHPGCCYETAMTRHFYHGRTETMRSCTLEAVRWCQSMQDPSVNLRERQ
QKMLQAFAKHNKMMKDCSAGKGFDRHLLGLLLIAKEEGLPVPELFTDPLFSKSGGGGNFVLSTSLVGYLRVQGVVVPMVH
NGYGFFYHIRDDREHHESLEGLHH*

Gene Symbol:ABCB4
Accession:NM_018850
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_000443
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_018849
Location:INTRON

Gene Symbol:CROT
Accession:NM_001243745
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516308
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516309
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420476
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420475
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420477
Location:INTRON

Gene Symbol:ABCB4
Accession:XR_001744810
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060054
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060047
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060046
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060050
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060049
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060048
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060045
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060052
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060053
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060051
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060055
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002985062 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ABCB4 CLINVAR
  CROT CLINVAR
OMIM 171060 CLINVAR
  606090 CLINVAR