RGD:12912100 Rat Genome Database

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Variant: RGD:12912100 - Homo sapiens

RGD ID:

12912100

RS ID:

rs1114167449

ClinVar ID:

CV419013

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARMC9

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	232,146,779
GRCh38	2	231,282,066

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
NC_000002.12:g.231282066C>T NC_000002.11:g.232146779C>T NM_025139.4:c.1559C>T NM_025139.6:c.1559C>T More...	11/20/2017	missense variant	pathogenic\|likely pathogenic	Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome

Disease Annotations Click to see Annotation Detail View

Joubert syndrome 1 (IAGP)

Joubert syndrome 30 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ARMC9
Accession:	NM_001352755
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_025139
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001352759
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001291656
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001352756
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001352758
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	487

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMASTMLRASLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKAFLLQALRWRLTTSHPGEQR ETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFASLAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRE NVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSVALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGH ENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMIRQIEFIIKQLNSEELPDGVLESDDDEDEDDEED HDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001352757
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	487

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMASTMLRASLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKAFLLQALRWRLTTSHPGEQR ETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFASLAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRE NVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSVALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGH ENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMIRQIEFIIKQLNSEELPDGVLESDDDEDEDDEED HDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHRNGYPV*

Gene Symbol:	ARMC9
Accession:	NM_001271466
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPVVEDQHTPPQTAQHARNGHPQALPAAHEAVYREGKPSTPESCVSSSSAIIAKPGEW LPRGRQEEPRPAPTGTPRQPREAPQDPGNGVTTRECASAFTCKPRAPCTPEMLDWNPPKAKASVLAPLFSSCGPQQASRP GSTASSTRGLPSSQSHRK*

Gene Symbol:	ARMC9
Accession:	NM_001352754
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	520

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEE HISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVH PSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHN LIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEK LKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFAS LAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSV ALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQLYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMI RQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLA NVQWSGDEPLQRPVTPGGHRNGYPVVEDQHTPPQTAQHARNGHPQALPAAHEAVYREGKPSTPESCVSSSSAIIAKPGEW LPRGRQEEPRPAPTGTPRQPREAPQDPGNGVTTRECASAFTCKPRAPCTPEMLDWNPPKAKASVLAPLFSSCGPQQASRP GSTASSTRGLPSSQSHRK*

Gene Symbol:	ARMC9
Accession:	NR_148040
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28625504

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000490913	CLINVAR
	RCV000515485	CLINVAR
	RCV001034541	CLINVAR
dbSNP (RS)	rs1114167449	CLINVAR
MedGen	C0431399	CLINVAR
	C4539937	CLINVAR
	CN262509	CLINVAR
NCBI Gene	ARMC9	CLINVAR
OMIM	213300	CLINVAR
	617612	CLINVAR
	617622	CLINVAR
OMIM Allele	617612.0009	CLINVAR
SNOMED CT	253175003	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:12912100 - Homo sapiens

Imported Disease Annotations - ClinVar