NM_153741.1(DPM3):c.254T>C (p.Leu85Ser)

Variation ID: Help
4702
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2009
Number of submission(s):
2
Condition(s):
Congenital disorder of glycosylation type 1O[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_153741.1(DPM3):c.254T>C (p.Leu85Ser)

Allele ID:
19741
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
  • Chr1: 155139987 (on Assembly GRCh38)
  • Chr1: 155112463 (on Assembly GRCh37)
Protein change:
L85S
HGVS:
  • NG_012871.1:g.5534T>C
  • NM_153741.1:c.254T>C
  • NP_714963.1:p.Leu85Ser
  • NC_000001.11:g.155139987A>G (GRCh38)
  • NC_000001.10:g.155112463A>G (GRCh37)
  • Q9P2X0:p.Leu85Ser
Links:
NCBI 1000 Genomes Browser:
rs121908155
Molecular consequence:
NM_153741.1:c.254T>C: missense variant [Sequence Ontology SO:0001583]
Functional consequence:
has functional consequence
Allele frequency:
ExAC 0.00001 (G)

1 Affected gene

Variant frequency in dbGaP Help

NM_153741.1(DPM3):c.254T>C (p.Leu85Ser)

GRCh37 Chr1:155112463
Called variantsPotential variants
Sample countno data0 of 43569

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
(Jul 1, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000025143.1
not provided
(Apr 20, 2012)
no assertion providedliterature onlygermline
    Leiden Muscular Dystrophy (DPM3)SCV000045750.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Leiden Muscular Dystrophy (DPM3)not providednot providedgermlinenot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 7, 2017