RGD:8621299 Rat Genome Database

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Variant: RGD:8621299 -  Homo sapiens

RGD ID: 8621299
RS ID: rs397509426
ClinVar ID: CV75125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 49,761,065
GRCh38 3 49,723,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_033731.1:g.5343C>T
NC_000003.12:g.49723632G>A
NC_000003.11:g.49761065G>A
NM_021971.1:c.95C>T
More... 		08/03/2022 missense|missense variant pathogenic|uncertain significance infancy|neonatal <1 / 1 000 000 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

Variant Details
Variant Transcripts
Gene Symbol:GMPPB
Accession:NM_021971
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKLILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*

Gene Symbol:GMPPB
Accession:NM_013334
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKLILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*
Variant Samples
Additional References at PubMed
PMID:19901254   PMID:23768512   PMID:25681410   PMID:25741868   PMID:28492532   PMID:28554332   PMID:30257713  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000054438 CLINVAR
  RCV000209926 CLINVAR
  RCV000493576 CLINVAR
  RCV000684892 CLINVAR
dbSNP (RS) rs397509426 CLINVAR
MedGen C3661900 CLINVAR
  C3809216 CLINVAR
  C3809221 CLINVAR
  C4518000 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR
  615350 CLINVAR
  615351 CLINVAR
  615352 CLINVAR
OMIM Allele 615320.0005 CLINVAR