NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs)

Variation ID: Help
10981
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2007
Number of submission(s):
1
Condition(s):
Renpenning syndrome 1[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs)

Allele ID:
26020
Variant type:
Deletion
Cytogenetic location:
Xp11.23
Genomic location:
  • ChrX: 48902401 - 48902402 (on Assembly GRCh38)
  • ChrX: 48759678 - 48759679 (on Assembly GRCh37)
HGVS:
  • NG_015967.1:g.9484_9485delAG
  • NM_001032383.1:c.461_462delAG
  • NM_001167992.1:c.202-41_202-40delAG
  • NM_005710.2:c.461_462delAG
  • NP_001027555.1:p.Glu154Alafs
  • NP_005701.1:p.Glu154Alafs
  • NC_000023.11:g.48902401_48902402delAG (GRCh38)
  • NC_000023.10:g.48759678_48759679delAG (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 14634649 Fig. 1 to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs606231195
Molecular consequence:
  • NM_001167992.1:c.202-41_202-40delAG: intron variant SO:0001627
  • NM_005710.2:c.461_462delAG: frameshift variant SO:0001589

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
(Jan 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000031960.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017