NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp)

Variation ID: Help
18391
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 2014
Number of submission(s):
1
Condition(s):
Ataxia, spastic, 4, autosomal recessive[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp)

Allele ID:
33430
Variant type:
single nucleotide variant
Cytogenetic location:
10p11.2
Genomic location:
  • Chr10: 30313926 (on Assembly GRCh38)
  • Chr10: 30602855 (on Assembly GRCh37)
Protein change:
N478D
HGVS:
  • NG_028096.1:g.40413A>G
  • NM_018109.3:c.1432A>G
  • NP_060579.3:p.Asn478Asp
  • NC_000010.11:g.30313926T>C (GRCh38)
  • NC_000010.10:g.30602855T>C (GRCh37)
  • Q9NVV4:p.Asn478Asp
Links:
NCBI 1000 Genomes Browser:
rs267606900
Molecular consequence:
NM_018109.3:c.1432A>G: 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
(Dec 1, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000020145.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017