RGD:13802455 Rat Genome Database

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Variant: RGD:13802455 -  Homo sapiens

RGD ID: 13802455
RS ID: rs761714818
ClinVar ID: CV559054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 49,759,776
GRCh38 3 49,722,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013334.3:c.656T>C
NP_037466.2:p.Ile219Thr
NM_021971.2:c.656T>C
NM_013334.3:c.656T>C
More... 		02/24/2023 missense variant pathogenic|likely pathogenic 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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GMPPB
Accession:NM_021971
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDTGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*

Gene Symbol:GMPPB
Accession:NM_013334
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDTGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*
Variant Samples
Additional References at PubMed
PMID:24780531   PMID:25741868   PMID:26133662   PMID:26310427   PMID:28492532   PMID:28688748   PMID:35006422  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000698360 CLINVAR
  RCV001542746 CLINVAR
  RCV001784331 CLINVAR
  RCV001814219 CLINVAR
  RCV003226372 CLINVAR
dbSNP (RS) rs761714818 CLINVAR
MedGen C3661900 CLINVAR
  C3809216 CLINVAR
  C4021745 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR
  615350 CLINVAR
  615351 CLINVAR
  615352 CLINVAR