NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)Rat Genome Database
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Variant : CV101440 (NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)) Homo sapiens

Symbol: CV101440
Name: NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)
RGD ID: 8642457
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001084326]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000303743]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765180]|not provided [RCV000712838]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: POMT2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_013382.5:c.232G>C
NG_008897.1:g.5433G>C
NC_000014.9:g.77320450C>G
NC_000014.8:g.77786793C>G
NP_037514.2:p.Glu78Gln
LRG_844t1:c.232G>C
LRG_844:g.5433G>C
LRG_844p1:p.Glu78Gln
NP_037514.2:p.Glu78Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381477,320,450 - 77,320,450CLINVAR
GRCh371477,786,793 - 77,786,793CLINVAR
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; 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



Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303743 CLINVAR
  RCV000712838 CLINVAR
  RCV000765180 CLINVAR
  RCV001084326 CLINVAR
dbSNP (RS) rs151103906 CLINVAR
MedGen C3150411 CLINVAR
  C3150418 CLINVAR
  C4284790 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 236670 CLINVAR
  607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR