RGD:11095193 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:11095193 -  Homo sapiens

RGD ID: 11095193
RS ID: rs749520121
ClinVar ID: CV229946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 88,466,382
GRCh38 10 86,706,625
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171610.2:c.1101-3280G>A
NM_001080114.2:c.756-3280G>A
LRG_385t1:c.991G>A
LRG_385:g.43062G>A
More... 		11/17/2017 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Myofibrillar myopathy, ZASP-related; none provided; Zaspopathy (type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDB3
Accession:NM_007078
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL
QKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASD
PGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVD
SASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPAS
AQPPAAASPSTASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTT
ASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGG
PAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRG
PFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACK
KPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKK
HAHTINL*

Gene Symbol:LDB3
Accession:NM_001368066
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL
QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM
YSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM
QDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSTASPPLATAAAHTAIASASTTAPASSPADSPRPQASS
YSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTP
SPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQ
VPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFA
PLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALG
HTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL*

Gene Symbol:LDB3
Accession:NM_001080116
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001080114
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368063
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001171610
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001171611
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368065
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368067
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001080115
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368068
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368064
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000222006 CLINVAR
  RCV000620055 CLINVAR
  RCV000766999 CLINVAR
  RCV001345092 CLINVAR
dbSNP (RS) rs749520121 CLINVAR
MedGen C3661900 CLINVAR
  C4721886 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene LDB3 CLINVAR
OMIM 605906 CLINVAR
  609452 CLINVAR