RGD:8597655 Rat Genome Database

Variant: RGD:8597655 - Homo sapiens

RGD ID:

8597655

RS ID:

rs121909796

ClinVar ID:

CV22791

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

VDR

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	48,240,526
GRCh38	12	47,846,743

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	Age of Onset	Trait Synonyms
NG_008731.1:g.63289G>T NC_000012.12:g.47846743C>A NC_000012.11:g.48240526C>A NP_001017535.1:p.Arg274Leu More...	08/06/2012	missense\|missense variant	pathogenic	neonatal/infancy	GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D; HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; PDDR IIA; PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA; RICKETS, HEREDITARY VITAMIN D-RESISTANT; RICKETS-ALOPECIA SYNDROME; VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA; VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL

Disease Annotations Click to see Annotation Detail View

Familial Hypophosphatemic Rickets (IAGP)

Hypophosphatemic Rickets (IAGP)

vitamin D-dependent rickets type 2A (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	VDR
Accession:	NM_001364085
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEISLGQPVAVPGWGCSSRATCQARGWRLLSSPPHPVWGSAPPLPPPLSTQPILSP VQPNPFPAGFSPVP

Gene Symbol:	VDR
Accession:	NM_001374661
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	NM_001374662
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	NM_001017535
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	XM_024449178
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	297

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWRNKKRSDWLSMVLRTAGVEGMEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKAL FTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLD AHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSV TLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRV SDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSH LLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	NM_001017536
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	324

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWRNKKRSDWLSMVLRTAGVEEAFGSEVSVRPHRRAPLGSTYLPPAPSGMEAMAASTSLPDPGDFDRNVPRICGVCGDR ATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKR KEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHC ITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEV IMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAA LIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	XM_047429500
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEIS*

Gene Symbol:	VDR
Accession:	NM_000376
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	274

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACR LKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVN DGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLLSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGL KKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQ YRCLSFQPECSMKLTPLVLEVFGNEIS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:3024987	PMID:8392085

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000008193	CLINVAR
dbSNP (RS)	rs121909796	CLINVAR
MedGen	C0342646	CLINVAR
NCBI Gene	VDR	CLINVAR
OMIM	277440	CLINVAR
	601769	CLINVAR
OMIM Allele	601769.0007	CLINVAR
SNOMED CT	237894002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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

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

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Variant: RGD:8597655 - Homo sapiens

Imported Disease Annotations - ClinVar