NM_006563.5(KLF1):c.954G>C (p.Trp318Cys) AND BLOOD GROUP--LUTHERAN INHIBITOR

Germline classification:: Affects (1 submission)
Last evaluated:: Aug 9, 2016
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:: RCV000240027.1

Allele description [Variation Report for NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)]

NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)

Genes:

LOC117125591:CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element [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.954G>C (p.Trp318Cys)

HGVS:

NC_000019.10:g.12885020C>G
NG_013087.1:g.7184G>C
NG_068129.1:g.110C>G
NM_006563.5:c.954G>CMANE SELECT
NP_006554.1:p.Trp318Cys
LRG_825:g.7184G>C
NC_000019.9:g.12995834C>G
NM_006563.3:c.954G>C

Protein change:

W318C

Links:

dbSNP: rs769526751

NCBI 1000 Genomes Browser:

rs769526751

Molecular consequence:

NM_006563.5:c.954G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298179	Australian Red Cross Blood Service	no assertion criteria provided	Affects (Aug 9, 2016)	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298179

Australian Red Cross Blood Service

no assertion criteria provided

Affects
(Aug 9, 2016)

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	unknown	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Australian Red Cross Blood Service, SCV000298179.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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