NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro)Rat Genome Database
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Variant : CV19037 (NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro)) Homo sapiens

Symbol: CV19037
Name: NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro)
RGD ID: 8557841
Condition: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004205]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000824425]|Muscle eye brain disease [RCV000671290]|not provided [RCV001268426]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/18/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: POMGNT1   TSPAN1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_017739.3:c.1814G>C
NM_001243766.1:c.1814G>C
NG_009205.2:g.35767G>C
NC_000001.11:g.46189539C>G
NC_000001.10:g.46655211C>G
NP_001230695.1:p.Arg605Pro
NP_060209.3:p.Arg605Pro
Q8WZA1:p.Arg605Pro
NM_001290129.1:c.1748G>C
NP_001277059.1:p.Arg462Pro
NP_001277058.1:p.Arg583Pro
NM_001290130.1:c.1385G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38146,189,539 - 46,189,539CLINVAR
GRCh37146,655,211 - 46,655,211CLINVAR
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




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:19299310   PMID:19679478   PMID:21361872   PMID:23689641   PMID:24731844   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004205 CLINVAR
  RCV000671290 CLINVAR
  RCV000824425 CLINVAR
  RCV001268426 CLINVAR
dbSNP (RS) rs267606962 CLINVAR
MedGen C0457133 CLINVAR
  C3150412 CLINVAR
  C3150417 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMGNT1 CLINVAR
  TSPAN1 CLINVAR
OMIM 606822 CLINVAR
  613151 CLINVAR
  613157 CLINVAR
  613170 CLINVAR
OMIM Allele 606822.0014 CLINVAR
SNOMED CT 277950001 CLINVAR