NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)

Variation ID: Help
10985
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 18, 2010
Number of submission(s):
1
Condition(s):
Renpenning syndrome 1[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)

Allele ID:
26024
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
  • ChrX: 48901944 (on Assembly GRCh38)
  • ChrX: 48759221 (on Assembly GRCh37)
Protein change:
Y65C
HGVS:
  • NG_015967.1:g.9027A>G
  • NM_005710.2:c.194A>G
  • NP_005701.1:p.Tyr65Cys
  • NC_000023.11:g.48901944A>G (GRCh38)
  • NC_000023.10:g.48759221A>G (GRCh37)
  • O60828:p.Tyr65Cys
Links:
NCBI 1000 Genomes Browser:
rs121917899
Molecular consequence:
NM_005710.2:c.194A>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)

GRCh37 ChrX:48759221
Called variantsPotential variants
Sample countno data0 of 40543

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jun 18, 2010)
no assertion criteria providedliterature onlygermlineOMIMSCV000031964.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016