NM_017739.3(POMGNT1):c.652+1G>ARat Genome Database
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Variant : CV19038 (NM_017739.3(POMGNT1):c.652+1G>A) Homo sapiens

Symbol: CV19038
Name: NM_017739.3(POMGNT1):c.652+1G>A
RGD ID: 8557842
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004206]|Muscle eye brain disease [RCV000050018]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 09/05/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Nucleotide Change: 652+1g-a
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_001243766.1:c.652+1G>A
NM_017739.3:c.652+1G>A
NG_009205.2:g.30463G>A
NC_000001.11:g.46194843C>T
NC_000001.10:g.46660515C>T
NM_001290130.1:c.223+1G>A
NM_001290129.1:c.586+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,194,843 - 46,194,843CLINVAR
GRCh37146,660,515 - 46,660,515CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3; Santavuori congenital muscular dystrophy
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:17878207   PMID:18195152  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004206 CLINVAR
  RCV000050018 CLINVAR
dbSNP (RS) rs386834035 CLINVAR
MedGen C0457133 CLINVAR
  C3150412 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613170 CLINVAR
OMIM Allele 606822.0015 CLINVAR
SNOMED CT 277950001 CLINVAR