NM_017739.3(POMGNT1):c.355-3T>GRat Genome Database

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Variant : CV538948 (NM_017739.3(POMGNT1):c.355-3T>G) Homo sapiens

Symbol: CV538948
Name: NM_017739.3(POMGNT1):c.355-3T>G
RGD ID: 13704742
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000661910]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000661909]
Clinical Significance: uncertain significance
Last Evaluated: 03/05/2018
Review Status: criteria provided, single submitter
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_017739.3:c.355-3T>G
NG_009205.2:g.29226T>G
NM_001243766.1:c.355-3T>G
NC_000001.11:g.46196080A>C
NC_000001.10:g.46661752A>C
NM_001290130.1:c.-75-3T>G
NM_001290129.1:c.289-3T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,196,080 - 46,196,080CLINVAR
GRCh37146,661,752 - 46,661,752CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: Limb-Girdle Muscular Dystrophy Type 3C; 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



Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000661909 CLINVAR
  RCV000661910 CLINVAR
dbSNP (RS) rs1553163972 CLINVAR
MedGen C3150412 CLINVAR
  C3150417 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR