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NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg) AND Bernard Soulier syndrome

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002245335.2

Allele description [Variation Report for NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg)]

NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg)

Genes:
SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg)
HGVS:
  • NC_000022.11:g.19724085T>G
  • NG_007974.1:g.5543T>G
  • NM_000407.5:c.242T>GMANE SELECT
  • NP_000398.1:p.Leu81Arg
  • LRG_478:g.5543T>G
  • NC_000022.10:g.19711608T>G
  • NR_037611.1:n.3982T>G
  • NR_037612.1:n.2486T>G
Protein change:
L81R
Links:
dbSNP: rs2145796108
NCBI 1000 Genomes Browser:
rs2145796108
Molecular consequence:
  • NM_000407.5:c.242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037611.1:n.3982T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037612.1:n.2486T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bernard Soulier syndrome (BSS)
Synonyms:
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF; PLATELET GLYCOPROTEIN Ib DEFICIENCY; Giant platelet syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009276; MeSH: D001606; MedGen: C0005129; Orphanet: 274; OMIM: 231200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515519ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024