Click here to see the new Variation Report design!

NM_025233.7(COASY):c.1486-3C>G

Variation ID: Help
599341
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 9, 2019
Number of submission(s):
1
Condition(s):
PONTOCEREBELLAR HYPOPLASIA, TYPE 12[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_025233.7(COASY):c.1486-3C>G

Allele ID:
590638
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
  • Chr17: 42565656 (on Assembly GRCh38)
  • Chr17: 40717674 (on Assembly GRCh37)
Other names:
  • IVS7AS, C-G, -3
HGVS:
  • NG_034110.1:g.8583C>G
  • NM_025233.7:c.1486-3C>G
  • NC_000017.11:g.42565656C>G (GRCh38)
  • NC_000017.10:g.40717674C>G (GRCh37)
  • NM_025233.6:c.1486-3C>G
Links:
OMIM: 609855.0004

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
(Jan 9, 2019)
no assertion criteria providedliterature only
  • PONTOCEREBELLAR HYPOPLASIA, TYPE 12[MedGen | OMIM]
germlineOMIMSCV000864178.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

Support Center