NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)Rat Genome Database
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Variant : CV259673 (NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)) Homo sapiens

Symbol: CV259673
Name: NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)
RGD ID: 11559884
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984297]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695969]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984298]|Muscle eye brain disease [RCV000984296]|Retinitis pigmentosa 76 [RCV000984299]|not provided [RCV000255207]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 11/01/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001243766.1:c.636C>T
NM_017739.3:c.636C>T
NG_009205.2:g.30446C>T
NC_000001.11:g.46194860G>A
NC_000001.10:g.46660532G>A
NP_001230695.1:p.Phe212=
NP_060209.3:p.Phe212=
NM_001290129.1:c.570C>T
NP_001277058.1:p.Phe190=
NM_001290130.1:c.207C>T
NP_001277059.1:p.Phe69=
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,194,860 - 46,194,860CLINVAR
GRCh37146,660,532 - 46,660,532CLINVAR
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



Additional References at PubMed
PMID:17559086   PMID:18330676   PMID:22323514   PMID:23326386   PMID:28424332   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000255207 CLINVAR
  RCV000695969 CLINVAR
  RCV000984296 CLINVAR
  RCV000984297 CLINVAR
  RCV000984298 CLINVAR
  RCV000984299 CLINVAR
dbSNP (RS) rs190057175 CLINVAR
MedGen C0457133 CLINVAR
  C3150412 CLINVAR
  C3150417 CLINVAR
  C4310704 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
  617123 CLINVAR
SNOMED CT 277950001 CLINVAR