NM_017739.3(POMGNT1):c.1895+1G>TRat Genome Database
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Variant : CV71232 (NM_017739.3(POMGNT1):c.1895+1G>T) Homo sapiens

Symbol: CV71232
Name: NM_017739.3(POMGNT1):c.1895+1G>T
RGD ID: 8617321
Condition: Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000366136]|Inborn genetic diseases [RCV001266790]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394027]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000704718]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001005010]|Muscle eye brain disease [RCV000050006]|POMGNT1-Related Disorders [RCV000778243]|Retinitis pigmentosa 76 [RCV000983992]|not provided [RCV000490077]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance
Last Evaluated: 08/21/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|splice donor variant
Evidence: clinical testing|literature only|not provided|research
HGVS Name(s): NM_001243766.1:c.1869+27G>T
NM_017739.3:c.1895+1G>T
NG_009205.2:g.35849G>T
NC_000001.11:g.46189457C>A
NC_000001.10:g.46655129C>A
NM_001290130.1:c.1466+1G>T
NM_001290129.1:c.1829+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,189,457 - 46,189,457CLINVAR
GRCh37146,655,129 - 46,655,129CLINVAR
Cytogenetic Map11p34.1CLINVAR
Trait Synonyms: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; 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; Santavuori congenital muscular dystrophy
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 1 000 000|<1 / 1 000 000




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:15466003   PMID:17906881   PMID:19299310   PMID:22323514   PMID:22554691   PMID:25741868   PMID:28424332   PMID:28492532   PMID:28688748  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000050006 CLINVAR
  RCV000366136 CLINVAR
  RCV000394027 CLINVAR
  RCV000490077 CLINVAR
  RCV000704718 CLINVAR
  RCV000778243 CLINVAR
  RCV000983992 CLINVAR
  RCV001005010 CLINVAR
  RCV001266790 CLINVAR
dbSNP (RS) rs386834024 CLINVAR
MedGen C0457133 CLINVAR
  C0950123 CLINVAR
  C3150417 CLINVAR
  C4310704 CLINVAR
  CN239202 CLINVAR
  CN239299 CLINVAR
  CN239352 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
  617123 CLINVAR
SNOMED CT 277950001 CLINVAR