RGD:26914402 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:26914402 -  Homo sapiens

RGD ID: 26914402
RS ID: rs746357591
ClinVar ID: CV828345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 49,759,568
GRCh38 3 49,722,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021971.4:c.781C>T
NG_011603.1:g.37579G>A
NG_033731.1:g.6840C>T
NG_033731.2:g.6840C>T
More... 		07/27/2022 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2T; Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14; Limb-girdle muscular dystrophy-dystroglycanopathy, type C14; MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED; none provided; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GMPPB
Accession:NM_021971
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSACIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*

Gene Symbol:GMPPB
Accession:NM_013334
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSACIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26133662   PMID:28492532   PMID:31211170  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001054940 CLINVAR
  RCV003106106 CLINVAR
dbSNP (RS) rs746357591 CLINVAR
MedGen C3661900 CLINVAR
  C3809216 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR
  615350 CLINVAR
  615351 CLINVAR
  615352 CLINVAR