NM_032581.3(FAM126A):c.414+1G>T

Variation ID: Help
1215
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 2011
Number of submission(s):
2
Condition(s):
Hypomyelination and Congenital Cataract[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_032581.3(FAM126A):c.414+1G>T

Allele ID:
16254
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
  • Chr7: 22977340 (on Assembly GRCh38)
  • Chr7: 23016959 (on Assembly GRCh37)
Other names:
  • IVS5, G-T, +1
HGVS:
  • NG_008392.1:g.41812G>T
  • NM_032581.3:c.414+1G>T
  • NC_000007.14:g.22977340C>A (GRCh38)
  • NC_000007.13:g.23016959C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs72549406
Molecular consequence:
NM_032581.3:c.414+1G>T: splice donor variant [Sequence Ontology SO:0001575]

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
(Sep 1, 2011)
no assertion criteria providedliterature only
  • Hypomyelination and Congenital Cataract[MedGen | OMIM]
germlineOMIMSCV000021424.2
Pathogenic
(Nov 16, 2010)
no assertion criteria providedliterature only
  • Hypomyelination and Congenital Cataract[MedGen | OMIM]
not providedGeneReviewsSCV000041540.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 30, 2017