NM_178172.5(GPIHBP1):c.417_433del17 (p.Pro140Serfs)

NM_178172.5(GPIHBP1):c.417_433del17 (p.Pro140Serfs)

Variant type:
Deletion
Cytogenetic location:
8q24.3
Genomic location:
  • Chr8:143215380 - 143215396 (on Assembly GRCh38)
  • Chr8:144297255 - 144297271 (on Assembly GRCh37)
HGVS:
  • NM_178172.5:c.417_433del17
  • NC_000008.11:g.143215380_143215396del17 (GRCh38)
  • NP_835466.2:p.Pro140Serfs
  • NC_000008.10:g.144297255_144297271del17 (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs587777642
Molecular consequence:
NM_178172.5:c.417_433del17: frameshift variant [Sequence Ontology SO:0001589]

Clinical significance

NM_178172.5(GPIHBP1):c.417_433del17 (p.Pro140Serfs)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

1 Affected gene

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Jul 30, 2015)
no assertion criteria providedliterature onlygermlinePubMed (1)
[See all records that cite this PMID]
OMIM

(Aug 20, 2014)

SCV000188603
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedHYPERLIPOPROTEINEMIA, TYPE ID (not provided)not providednot providedPubMedFor discussion of the 17-bp deletion (c.413_429del) in the GPIHBP1 gene that was found in compound heterozygous state in a patient with severe chylom…Full description

Last Updated: Aug 1, 2015