NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)Rat Genome Database

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Variant : CV71243 (NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)) Homo sapiens

Symbol: CV71243
Name: NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)
RGD ID: 8617332
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000408610]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984294]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001062800]|Muscle eye brain disease [RCV000050017]|Retinitis pigmentosa 76 [RCV000984295]|not provided [RCV000578838]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 06/19/2019
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense|stop-gain
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_001243766.1:c.643C>T
NM_017739.3:c.643C>T
NG_009205.2:g.30453C>T
NC_000001.11:g.46194853G>A
NC_000001.10:g.46660525G>A
NP_001230695.1:p.Arg215Ter
NP_060209.3:p.Arg215Ter
NM_001290130.1:c.214C>T
NM_001290129.1:c.577C>T
NP_001277058.1:p.Arg193Ter
NP_001277059.1:p.Arg72Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,194,853 - 46,194,853CLINVAR
GRCh37146,660,525 - 46,660,525CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-Girdle Muscular Dystrophy Type 3C; MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED; Santavuori congenital muscular dystrophy
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:19299310   PMID:22554691   PMID:25741868   PMID:26938784   PMID:28492532   PMID:28832562  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000050017 CLINVAR
  RCV000408610 CLINVAR
  RCV000578838 CLINVAR
  RCV000984294 CLINVAR
  RCV000984295 CLINVAR
  RCV001062800 CLINVAR
dbSNP (RS) rs386834034 CLINVAR
MedGen C0457133 CLINVAR
  C3150412 CLINVAR
  C3150417 CLINVAR
  C4310704 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
  617123 CLINVAR
SNOMED CT 277950001 CLINVAR