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NM_000478.5(ALPL):c.400_401delACinsCA (p.Thr134His)

Variation ID: Help
188877
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000478.5(ALPL):c.400_401delACinsCA (p.Thr134His)

Allele ID:
186616
Variant type:
Indel
Cytogenetic location:
1p36.12
Genomic location:
  • Chr1: 21563212 - 21563213 (on Assembly GRCh38)
  • Chr1: 21889705 - 21889706 (on Assembly GRCh37)
HGVS:
  • NG_008940.1:g.58848_58849delACinsCA
  • NM_000478.5:c.400_401delACinsCA
  • NP_000469.3:p.Thr134His
  • NC_000001.11:g.21563212_21563213delACinsCA (GRCh38)
  • NC_000001.10:g.21889705_21889706delACinsCA (GRCh37)
  • NM_000478.4:c.400_401delACinsCA
Links:
NCBI 1000 Genomes Browser:
rs786204530
Molecular consequence:
NM_000478.5:c.400_401delACinsCA: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

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
Likely pathogenic
(Jul 10, 2014)
criteria provided, single submitter
literature onlyunknownCounsylSCV000220500.1
Pathogenic
(Aug 24, 2016)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000329063.5
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, unknownnot providednot provided
    Counsylnot providednot providedunknownnot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.400_401delACinsCA varian…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 3, 2018