NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)Rat Genome Database

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Variant : CV19031 (NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)) Homo sapiens

Symbol: CV19031
Name: NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)
RGD ID: 8557835
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004199]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984301]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984302]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001219572]|Muscle eye brain disease [RCV000984210]|Retinitis pigmentosa 76 [RCV000984303]|not provided [RCV000150001]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 08/14/2019
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_017739.3:c.1324C>T
NM_001243766.1:c.1324C>T
NG_009205.2:g.32909C>T
NC_000001.11:g.46192397G>A
NC_000001.10:g.46658069G>A
NP_001230695.1:p.Arg442Cys
NP_060209.3:p.Arg442Cys
Q8WZA1:p.Arg442Cys
NM_001290129.1:c.1258C>T
NM_001290130.1:c.895C>T
NP_001277059.1:p.Arg299Cys
NP_001277058.1:p.Arg420Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,192,397 - 46,192,397CLINVAR
GRCh37146,658,069 - 46,658,069CLINVAR
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 BRAIN AND EYE ANOMALIES), TYPE A, 3; 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: infancy
Prevalence: <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:15236414   PMID:16427280   PMID:17906881   PMID:21361872   PMID:25390965   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004199 CLINVAR
  RCV000150001 CLINVAR
  RCV000984210 CLINVAR
  RCV000984301 CLINVAR
  RCV000984302 CLINVAR
  RCV000984303 CLINVAR
  RCV001219572 CLINVAR
dbSNP (RS) rs28940869 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
OMIM Allele 606822.0007 CLINVAR
SNOMED CT 277950001 CLINVAR