RGD:11645998 Rat Genome Database

Variant: RGD:11645998 - Homo sapiens

RGD ID:

11645998

RS ID:

rs886061478

ClinVar ID:

CV307821

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLR1C RSPH9

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	43,624,388
GRCh38	6	43,656,651

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
NG_023436.1:g.16622A>G NC_000006.12:g.43656651A>G NC_000006.11:g.43624388A>G NP_689945.2:p.Thr200Ala More...	01/12/2018	intron variant\|missense variant	uncertain significance	CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS

Disease Annotations Click to see Annotation Detail View

primary ciliary dyskinesia 12 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	3UTRS;EXON

Gene Symbol:
Accession:
Location:	3UTRS;EXON

Gene Symbol:	RSPH9
Accession:	NM_001424119
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKALLEKADLDPSLDFMDSLEHDIPKGSEAVVQGDFTWLLSRC GFGWPCSWDSCSVSMRVLEHPDGEGQCPGGAAQPALAGPHLLPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNR V*

Gene Symbol:	RSPH9
Accession:	NM_001424121
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKALLEKADLDPSLDFMDSLEHDIPKGNSPLPGGHGICPQAIA VGHATCHFPLRLEPRA*

Gene Symbol:	RSPH9
Accession:	NM_152732
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALF KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKALLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLR SLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML*

Gene Symbol:	RSPH9
Accession:	NM_001424120
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	185

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVIDKAVAIIPRGALFKTPFGPTHVNRTFEG LSLSEAKKLSSYFHFREPVELKNKALLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLRSLLWPGLTFYHAPRT KNYGYVYVGTGEKNMDLPFML*

Gene Symbol:	RSPH9
Accession:	NM_001193341
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	185

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVIDKAVAIIPRGALFKTPFGPTHVNRTFEG LSLSEAKKLSSYFHFREPVELKNKALLEKADLDPSLDFMDSLEHDIPKGSEAVVQGDFTWLLSRCGFGWPCSWDSCSVSM RVLEHPDGEGQCPGGAAQPALAGPHLLPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNRV*

Gene Symbol:	RSPH9
Accession:	NR_187614
Location:	EXON;NON-CODING

Gene Symbol:	RSPH9
Accession:	NR_187613
Location:	EXON;NON-CODING

Gene Symbol:	POLR1C
Accession:	NM_203290
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001318876
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001363658
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	XM_047419577
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000268571	CLINVAR
dbSNP (RS)	rs886061478	CLINVAR
MedGen	C2675228	CLINVAR
NCBI Gene	POLR1C	CLINVAR
	RSPH9	CLINVAR
OMIM	610060	CLINVAR
	612648	CLINVAR
	612650	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:11645998 - Homo sapiens

Imported Disease Annotations - ClinVar