NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)Rat Genome Database
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Variant : CV19039 (NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)) Homo sapiens

Symbol: CV19039
Name: NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)
RGD ID: 8557843
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798530]|Muscle eye brain disease [RCV000411094]|Muscle eye brain disease [RCV000763346]|not provided [RCV001091843]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 04/01/2019
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_001243766.1:c.1469G>A
NM_017739.3:c.1469G>A
NG_009205.2:g.33138G>A
NC_000001.11:g.46192168C>T
NC_000001.10:g.46657840C>T
NP_060209.3:p.Cys490Tyr
NP_001230695.1:p.Cys490Tyr
Q8WZA1:p.Cys490Tyr
NM_001290129.1:c.1403G>A
NP_001277059.1:p.Cys347Tyr
NP_001277058.1:p.Cys468Tyr
NM_001290130.1:c.1040G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,192,168 - 46,192,168CLINVAR
GRCh37146,657,840 - 46,657,840CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-Girdle Muscular Dystrophy Type 3C; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; 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; Retinitis pigmentosa 76; 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:15466003   PMID:17030669   PMID:17559086   PMID:17878207   PMID:18195152   PMID:19067344   PMID:21361872   PMID:22323514   PMID:24282183   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004207 CLINVAR
  RCV000411094 CLINVAR
  RCV000763346 CLINVAR
  RCV000798530 CLINVAR
  RCV001091843 CLINVAR
dbSNP (RS) rs267606960 CLINVAR
MedGen C0457133 CLINVAR
  C3150412 CLINVAR
  C3150417 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
  617123 CLINVAR
OMIM Allele 606822.0016 CLINVAR
SNOMED CT 277950001 CLINVAR