NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV572942 (NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)) Homo sapiens

Symbol: CV572942
Name: NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)
RGD ID: 13816053
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000706103]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763951]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: 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.1300C>T
LRG_844t1:c.1300C>T
LRG_844:g.39107C>T
NG_008897.1:g.39107C>T
NC_000014.9:g.77286776G>A
NC_000014.8:g.77753119G>A
LRG_844p1:p.Arg434Trp
NP_037514.2:p.Arg434Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381477,286,776 - 77,286,776CLINVAR
GRCh371477,753,119 - 77,753,119CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000706103 CLINVAR
  RCV000763951 CLINVAR
dbSNP (RS) rs768256055 CLINVAR
MedGen C3150411 CLINVAR
  C4284790 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 236670 CLINVAR
  607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR