NM_001376.4(DYNC1H1):c.1750A>C (p.Ile584Leu)

Variation ID: Help
30032
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 29, 2012
Number of submission(s):
1
Condition(s):
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001376.4(DYNC1H1):c.1750A>C (p.Ile584Leu)

Allele ID:
38987
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.3
Genomic location:
  • Chr14: 101985975 (on Assembly GRCh38)
  • Chr14: 102452312 (on Assembly GRCh37)
Protein change:
I584L
HGVS:
  • NG_008777.1:g.26448A>C
  • NM_001376.4:c.1750A>C
  • NP_001367.2:p.Ile584Leu
  • NC_000014.9:g.101985975A>C (GRCh38)
  • NC_000014.8:g.102452312A>C (GRCh37)
  • Q14204:p.Ile584Leu
Links:
NCBI 1000 Genomes Browser:
rs387906741
Molecular consequence:
NM_001376.4:c.1750A>C: missense variant [Sequence Ontology SO:0001583]

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
(May 29, 2012)
no assertion criteria providedliterature only
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant[MedGen | Orphanet | OMIM]
germlineOMIMSCV000044223.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 15, 2017