NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln)Rat Genome Database

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Variant : CV405212 (NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln)) Homo sapiens

Symbol: CV405212
Name: NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln)
RGD ID: 12893722
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984208]|Muscle eye brain disease [RCV000984206]|Retinitis pigmentosa 76 [RCV000984209]|not provided [RCV000479982]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 11/02/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001243766.1:c.1463G>A
NM_017739.3:c.1463G>A
NG_009205.2:g.33132G>A
NC_000001.11:g.46192174C>T
NC_000001.10:g.46657846C>T
NP_001230695.1:p.Arg488Gln
NP_060209.3:p.Arg488Gln
NM_001290130.1:c.1034G>A
NP_001277059.1:p.Arg345Gln
NM_001290129.1:c.1397G>A
NP_001277058.1:p.Arg466Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,192,174 - 46,192,174CLINVAR
GRCh37146,657,846 - 46,657,846CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: 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




Additional Information

Database Acc Id Source(s)
ClinVar RCV000479982 CLINVAR
  RCV000984206 CLINVAR
  RCV000984207 CLINVAR
  RCV000984208 CLINVAR
  RCV000984209 CLINVAR
dbSNP (RS) rs766382416 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