RGD:13520282 Rat Genome Database

Variant: RGD:13520282 - Homo sapiens

RGD ID:

13520282

RS ID:

rs200146597

ClinVar ID:

CV489756

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NR1H4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	100,904,778
GRCh38	12	100,511,000

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001193907.1:p.Thr101Ile NG_029843.1:g.42228C>T NC_000012.12:g.100511000C>T NC_000012.11:g.100904778C>T More...	05/22/2023	missense variant	likely benign\|uncertain significance	none provided

Disease Annotations Click to see Annotation Detail View

progressive familial intrahepatic cholestasis 5 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NR1H4
Accession:	NM_001206979
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTT KSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQ IALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQ YIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	NM_001206993
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNL GFYPQQPEEWYSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGF FRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEG RDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLP GFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLT AIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLC EIWDVQ*

Gene Symbol:	NR1H4
Accession:	XM_047429943
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCR EKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALL KGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKD REAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	XM_011539041
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNL GFYPQQPEEWYSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGL LTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEE FSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGI SDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRL TELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	NM_005123
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCR EKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALL KGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKD REAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	XM_006719719
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNL GFYPQQPEEWYSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGF FRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEG RDLRQVTSTTKSCRCRRKLNSPQINRLFYILLWIHITNRGCLRK*

Gene Symbol:	NR1H4
Accession:	NM_001206977
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTT KSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQ IALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQ YIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	NM_001206992
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNL GFYPQQPEEWYSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGF FRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLR QVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQT LDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVI LSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWD VQ*

Gene Symbol:	NR1H4
Accession:	NM_001206978
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGLLTEIQCKSKR LRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLIL TEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFS FYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHH AEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	XM_011539040
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTT KSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQ IALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQ YIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ*

Gene Symbol:	NR1H4
Accession:	XM_047429944
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEW YSPGIYELRRMPAETLYQGEIEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAV YKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTT KSCRCRRKLNSPQINRLFYILLWIHITNRGCLRK*

Gene Symbol:	NR1H4
Accession:	NR_135146
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000598511	CLINVAR
	RCV003905525	CLINVAR
dbSNP (RS)	rs200146597	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	NR1H4	CLINVAR
OMIM	603826	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13520282 - Homo sapiens

Imported Disease Annotations - ClinVar