NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)Rat Genome Database

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Variant : CV192127 (NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)) Homo sapiens

Symbol: CV192127
Name: NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)
RGD ID: 10050573
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000543953]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763950]|not provided [RCV000712836]|not specified [RCV000175458]
Clinical Significance: conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 05/07/2019
Review Status: 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: missense variant
Evidence: clinical testing
HGVS Name(s): NM_013382.5:c.1903G>A
NG_008897.1:g.47025G>A
NC_000014.9:g.77278858C>T
NC_000014.8:g.77745201C>T
NP_037514.2:p.Val635Ile
LRG_844t1:c.1903G>A
LRG_844:g.47025G>A
LRG_844p1:p.Val635Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381477,278,858 - 77,278,858CLINVAR
GRCh371477,745,201 - 77,745,201CLINVAR
Cytogenetic Map1414q24.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:17559086   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175458 CLINVAR
  RCV000543953 CLINVAR
  RCV000712836 CLINVAR
  RCV000763950 CLINVAR
dbSNP (RS) rs142299878 CLINVAR
MedGen C3150411 CLINVAR
  C4284790 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 236670 CLINVAR
  607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR