RGD:13814461 Rat Genome Database

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Variant: RGD:13814461 -  Homo sapiens

RGD ID: 13814461
RS ID: rs145564018
ClinVar ID: CV563104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GMPPB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 49,760,404
GRCh38 3 49,722,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011603.1:g.38415C>T
NG_033731.2:g.6004G>A
NC_000003.12:g.49722971C>T
NC_000003.11:g.49760404C>T
More... 		08/10/2023 splice donor 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; 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_013334
Location:INTRON

Gene Symbol:GMPPB
Accession:NM_021971
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23768512   PMID:26310427   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690893 CLINVAR
dbSNP (RS) rs145564018 CLINVAR
MedGen C3809216 CLINVAR
NCBI Gene GMPPB CLINVAR
OMIM 615320 CLINVAR
  615350 CLINVAR
  615351 CLINVAR
  615352 CLINVAR