NM_000128.3(F11):c.100G>C (p.Asp34His) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059001.1

Allele description [Variation Report for NM_000128.3(F11):c.100G>C (p.Asp34His)]

NM_000128.3(F11):c.100G>C (p.Asp34His)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.3(F11):c.100G>C (p.Asp34His)
HGVS:
  • NC_000004.12:g.186271653G>C
  • NG_008051.1:g.10690G>C
  • NM_000128.3:c.100G>C
  • NM_001354804.2:c.100G>C
  • NP_000119.1:p.Asp34His
  • NP_001341733.1:p.Asp34His
  • LRG_583t1:c.100G>C
  • LRG_583:g.10690G>C
  • LRG_583p1:p.Asp34His
  • NC_000004.11:g.187192807G>C
  • P03951:p.Asp34His
Protein change:
D34H
Links:
UniProtKB: P03951#VAR_012085; UniProtKB/Swiss-Prot: VAR_012085; dbSNP: rs281875267
NCBI 1000 Genomes Browser:
rs281875267
Molecular consequence:
  • NM_000128.3:c.100G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354804.2:c.100G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090522UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Six point mutations that cause factor XI deficiency.

Pugh RE, McVey JH, Tuddenham EG, Hancock JF.

Blood. 1995 Mar 15;85(6):1509-16.

PubMed [citation]
PMID:
7888672

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090522.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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