Click here to see the new Variation Report design!

NM_005055.4(RAPSN):c.-210A>G

Variation ID: Help
8051
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 14, 2016
Number of submission(s):
2
Condition(s):
  • Congenital myasthenic syndrome [MedGen - Orphanet - OMIM]
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005055.4(RAPSN):c.-210A>G

Allele ID:
23090
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
  • Chr11: 47449174 (on Assembly GRCh38)
  • Chr11: 47470726 (on Assembly GRCh37)
Other names:
  • -38A>G
  • -38A-G
HGVS:
  • NG_008312.1:g.5005A>G
  • NM_005055.4:c.-210A>G
  • NC_000011.10:g.47449174T>C (GRCh38)
  • NC_000011.9:g.47470726T>C (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 12651869 Fig. 4B to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs786200905
Molecular consequence:
NM_005055.4:c.-210A>G: 5 prime UTR variant [Sequence Ontology SO:0001623]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 1, 2004)
no assertion criteria providedliterature only
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency[MedGen | OMIM]
germlineOMIMSCV000028725.4
Pathogenic
(Jul 14, 2016)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000292402.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 11, 2018