NM_015107.2(PHF8):c.529A>T (p.Lys177Ter)

Variation ID: Help
10799
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, 2007
Number of submission(s):
1
Condition(s):
Siderius X-linked mental retardation syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_015107.2(PHF8):c.529A>T (p.Lys177Ter)

Allele ID:
25838
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
  • ChrX: 54016662 (on Assembly GRCh38)
  • ChrX: 54043095 (on Assembly GRCh37)
Protein change:
K177*
HGVS:
  • NG_021309.1:g.33475A>T
  • NM_015107.2:c.529A>T
  • NP_055922.1:p.Lys177Ter
  • NC_000023.11:g.54016662T>A (GRCh38)
  • NC_000023.10:g.54043095T>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121918523
Molecular consequence:
NM_015107.2:c.529A>T: nonsense [Sequence Ontology SO:0001587]

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
(Jul 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000031778.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017