RGD:156180777 Rat Genome Database

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Variant: RGD:156180777 -  Homo sapiens

RGD ID: 156180777
ClinVar ID: CV1953450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL13B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 93,755,538
GRCh38 3 94,036,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001174151.2:c.320C>T
NM_001321328.2:c.584C>T
NM_001174150.2:c.629C>T
NM_001410782.1:c.629C>T
More... 		12/02/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARL13B
Accession:XM_006713532
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV
VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI
DKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN
PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD
RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV
PQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001410782
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:XM_011512533
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV
IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG
KKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE
PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED
ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP
LAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001174151
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGL
YWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV
IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN
GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:NM_144996
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLL
HVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN
EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK
TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHDVI
S*

Gene Symbol:ARL13B
Accession:XM_011512532
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLVKPQQQRESKESMEKLSSAKLVPGAADLKEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGV
IFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYG
KKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPE
PTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNED
ETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPP
LAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001174150
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET
HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:XM_011512535
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERME
ETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYW
LLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVII
ENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGK
KKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDAHD
VIS*

Gene Symbol:ARL13B
Accession:XM_047447661
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGLYWLL
HVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASVIIEN
EGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKK
TKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:XM_017005853
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIKKGL
YWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTNPFQPIASV
IIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESAN
GKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPNSDA
HDVIS*

Gene Symbol:ARL13B
Accession:NM_182896
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGET
HHNDFYRKPLPPLAVPQRPNSDAHDVIS*

Gene Symbol:ARL13B
Accession:NM_001321328
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLKLFFCLGLQECWDYRHEPPRPARPEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFV
VDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKI
DKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAELDGTSGLAELDPEPTN
PFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETD
RPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAV
PQRPNSDAHDVIS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINLRQGKFEVTIFDLGGGIRIRG
IWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRISGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLC
QIEPCSAISGYGKKIDKSIKKGLYWLLHVIARDFDALNERIQKETTEQRVLEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIETQGQVNHNGQKNNEFGLVENY
KEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVEPLNIDDCAPESPTPPPPPPPDFYRKPLPPLAVPQRPNSDA
HDVIS*

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002574106 CLINVAR
MedGen C2676771 CLINVAR
NCBI Gene ARL13B CLINVAR
OMIM 608922 CLINVAR
  612291 CLINVAR