U.S. flag

An official website of the United States government

NM_006563.5(KLF1):c.421C>T (p.Arg141Ter) AND BLOOD GROUP--LUTHERAN INHIBITOR

Germline classification:
Affects (1 submission)
Last evaluated:
Jul 31, 2017
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:
RCV000617799.1

Allele description [Variation Report for NM_006563.5(KLF1):c.421C>T (p.Arg141Ter)]

NM_006563.5(KLF1):c.421C>T (p.Arg141Ter)

Genes:
LOC130063673:ATAC-STARR-seq lymphoblastoid silent region 10180 [Gene]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_006563.5(KLF1):c.421C>T (p.Arg141Ter)
HGVS:
  • NC_000019.10:g.12885809G>A
  • NG_013087.1:g.6395C>T
  • NM_006563.5:c.421C>TMANE SELECT
  • NP_006554.1:p.Arg141Ter
  • LRG_825:g.6395C>T
  • NC_000019.9:g.12996623G>A
  • NM_006563.3:c.421C>T
Protein change:
R141*
Links:
dbSNP: rs1426116895
NCBI 1000 Genomes Browser:
rs1426116895
Molecular consequence:
  • NM_006563.5:c.421C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
protein truncation [Variation Ontology: 0015]

Condition(s)

Name:
BLOOD GROUP--LUTHERAN INHIBITOR (INLU)
Synonyms:
DOMINANT LU (a-b-) PHENOTYPE
Identifiers:
MedGen: C1292231; OMIM: 111150

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
SCV000692593Australian Red Cross Blood Service
no assertion criteria provided
Affects
(Jul 31, 2017) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Australian Red Cross Blood Service, SCV000692593.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

Serologic Lu(a-b-) phenotype but massively parallel sequencing did not identify any variants in the BCAM gene that could explain this phenotype. Reduced BCAM and CD44 expression by flow cytometry and increased levels of fetal hemaglobin (HbF).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023