RGD:156228355 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:156228355 -  Homo sapiens

RGD ID: 156228355
ClinVar ID: CV2093681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL13B  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 93,755,447
GRCh38 3 94,036,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144996.4:c.217A>T
NM_001174151.2:c.229A>T
NM_001321328.2:c.493A>T
NM_001174150.2:c.538A>T
More... 		10/16/2022 non-coding transcript variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARL13B
Accession:NM_144996
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSI*KGLYWLL
HVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN
EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK
TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHDVI
S*

Gene Symbol:ARL13B
Accession:XM_047447661
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSI*KGLYWLL
HVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN
EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK
TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:XM_011512535
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERME
ETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSI*KGLYW
LLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVII
ENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGK
KKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHD
VIS*

Gene Symbol:ARL13B
Accession:NM_001174151
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSI*KGL
YWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV
IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN
GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:XM_011512533
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV
IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG
KKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE
PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED
ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP
LAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:XM_011512532
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV
IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG
KKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE
PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED
ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP
LAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:XM_006713532
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV
VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI
DKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN
PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD
RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV
PQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001321328
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV
VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI
DKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN
PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD
RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV
PQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001410782
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:XM_017005853
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSI*KGL
YWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV
IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN
GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:NM_001174150
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET
HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_182896
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSI*KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET
HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

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

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

Variant Samples
Additional References at PubMed
PMID:18674751   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002894458 CLINVAR
MedGen C2676771 CLINVAR
NCBI Gene ARL13B CLINVAR
OMIM 608922 CLINVAR
  612291 CLINVAR