U.S. flag

An official website of the United States government

NM_000173.7(GP1BA):c.657C>A (p.His219Gln) AND Bernard Soulier syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2022
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:
RCV002227300.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.657C>A (p.His219Gln)]

NM_000173.7(GP1BA):c.657C>A (p.His219Gln)

Gene:
GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000173.7(GP1BA):c.657C>A (p.His219Gln)
HGVS:
  • NC_000017.11:g.4933261C>A
  • NG_008767.2:g.5967C>A
  • NM_000173.7:c.657C>AMANE SELECT
  • NP_000164.5:p.His219Gln
  • LRG_480t1:c.657C>A
  • LRG_480:g.5967C>A
  • LRG_480p1:p.His219Gln
  • NC_000017.10:g.4836556C>A
Protein change:
H219Q
Links:
dbSNP: rs574742436
NCBI 1000 Genomes Browser:
rs574742436
Molecular consequence:
  • NM_000173.7:c.657C>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505678Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
no assertion criteria provided
Uncertain significance
(May 2, 2022) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto, SCV002505678.1

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

Last Updated: Dec 24, 2023