RGD:11550500 Rat Genome Database

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Variant: RGD:11550500 -  Homo sapiens

RGD ID: 11550500
RS ID: rs749730219
ClinVar ID: CV251232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 49,759,704
GRCh38 3 49,722,271
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033731.1:g.6704G>A
NC_000003.12:g.49722271C>T
NC_000003.11:g.49759704C>T
NP_037466.3:p.Arg243Gln
More... 		11/11/2019 missense variant likely benign|uncertain significance AllHighlyPenetrant; 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; 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 Q (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PEQLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*

Gene Symbol:GMPPB
Accession:NM_013334
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHE
EEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFV
EKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PEQLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251834 CLINVAR
  RCV001226319 CLINVAR
dbSNP (RS) rs749730219 CLINVAR
MedGen C3809216 CLINVAR
  CN169374 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR
  615350 CLINVAR
  615351 CLINVAR
  615352 CLINVAR