RGD:11558342 Rat Genome Database

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Variant: RGD:11558342 - Homo sapiens

RGD ID:

11558342

RS ID:

rs764109067

ClinVar ID:

CV260900

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARL13B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	93,755,508
GRCh38	3	94,036,664

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_017076.1:g.61526G>A NC_000003.12:g.94036664G>A NC_000003.11:g.93755508G>A p.(Arg200His) More...	05/10/2023	missense variant	pathogenic\|likely pathogenic	none provided

Disease Annotations Click to see Annotation Detail View

Joubert syndrome (IAGP)

Joubert syndrome 8 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ARL13B
Accession:	NM_144996
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLL HVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHDVI S*

Gene Symbol:	ARL13B
Accession:	XM_011512535
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	175

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERME ETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYW LLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVII ENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGK KKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHD VIS*

Gene Symbol:	ARL13B
Accession:	XM_011512533
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG KKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP LAVPQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	XM_017005853
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	97

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGL YWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA HDVIS*

Gene Symbol:	ARL13B
Accession:	NM_001410782
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA HDVIS*

Gene Symbol:	ARL13B
Accession:	NM_001174151
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	97

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGL YWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA HDVIS*

Gene Symbol:	ARL13B
Accession:	NM_001321328
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	185

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI DKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV PQRPNSDAHDVIS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA HDVIS*

Gene Symbol:	ARL13B
Accession:	NM_001174150
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	NM_182896
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	200

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	XM_047447661
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLL HVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	XM_006713532
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	185

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI DKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV PQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	XM_011512532
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG KKIDKSIKKGLYWLLHVIARDFDALNEHIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP LAVPQRPNSDAHDVIS*

Gene Symbol:	ARL13B
Accession:	NR_033427
Location:	EXON;NON-CODING

Gene Symbol:	ARL13B
Accession:	NR_135621
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18674751	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000256476	CLINVAR
	RCV001092355	CLINVAR
	RCV001859504	CLINVAR
dbSNP (RS)	rs764109067	CLINVAR
MedGen	C2676771	CLINVAR
	C3661900	CLINVAR
	C5679612	CLINVAR
NCBI Gene	ARL13B	CLINVAR
OMIM	608922	CLINVAR
	612291	CLINVAR

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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)

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

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Variant: RGD:11558342 - Homo sapiens

Imported Disease Annotations - ClinVar