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NM_024844.4(NUP85):c.405+1G>A

Variation ID: Help
590317
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 12, 2018
Number of submission(s):
1
Condition(s):
NEPHROTIC SYNDROME, TYPE 17[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_024844.4(NUP85):c.405+1G>A

Allele ID:
581256
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
  • Chr17: 75213120 (on Assembly GRCh38)
  • Chr17: 73209215 (on Assembly GRCh37)
Other names:
  • IVS5DS, G-A, +1
HGVS:
  • NM_024844.4:c.405+1G>A
  • NC_000017.11:g.75213120G>A (GRCh38)
  • NC_000017.10:g.73209215G>A (GRCh37)
Links:
OMIM: 170285.0003
Molecular consequence:
NM_024844.4:c.405+1G>A: splice donor variant [Sequence Ontology SO:0001575]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 12, 2018)
no assertion criteria providedliterature onlygermlineOMIMSCV000852069.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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