NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)Rat Genome Database
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Variant : CV18260 (NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)) Homo sapiens

Symbol: CV18260
Name: NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)
RGD ID: 8557283
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003377]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648175]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003376]|Muscular dystrophy [RCV000193219]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000515301]|not provided [RCV000081569]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 09/28/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMT2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|curation|literature only
HGVS Name(s): NM_013382.5:c.1997A>G
NG_008897.1:g.47119A>G
NC_000014.9:g.77278764T>C
NC_000014.8:g.77745107T>C
NP_037514.2:p.Tyr666Cys
LRG_844t1:c.1997A>G
LRG_844:g.47119A>G
LRG_844p1:p.Tyr666Cys
Q9UKY4:p.Tyr666Cys
NP_037514.2:p.Tyr666Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381477,278,764 - 77,278,764CLINVAR
GRCh371477,745,107 - 77,745,107CLINVAR
Cytogenetic Map1414q24.3CLINVAR
Trait Synonyms: Cerebroocular dysgenesis; Cerebroocular dysplasia muscular dystrophy syndrome; Chemke syndrome; COD-MD syndrome; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Hard +/- E syndrome; Hydrocephalus, agyria and retinal dysplasia; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES; MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Pagon syndrome; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED; Warburg syndrome
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000



Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:17634419   PMID:17878207   PMID:17878297   PMID:19138766   PMID:19299310   PMID:24002165   PMID:25741868   PMID:27854218   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003376 CLINVAR
  RCV000003377 CLINVAR
  RCV000081569 CLINVAR
  RCV000193219 CLINVAR
  RCV000515301 CLINVAR
  RCV000648175 CLINVAR
dbSNP (RS) rs200198778 CLINVAR
MedGen C0026850 CLINVAR
  C3150411 CLINVAR
  C3150416 CLINVAR
  C4284790 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 236670 CLINVAR
  607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR
OMIM Allele 607439.0004 CLINVAR