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NM_000186.4(CFH):c.668AGA[1] (p.Lys224del) AND Factor H deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
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:
RCV000018022.30

Allele description [Variation Report for NM_000186.4(CFH):c.668AGA[1] (p.Lys224del)]

NM_000186.4(CFH):c.668AGA[1] (p.Lys224del)

Gene:
CFH:complement factor H [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_000186.4(CFH):c.668AGA[1] (p.Lys224del)
HGVS:
  • NC_000001.11:g.196679671AGA[1]
  • NG_007259.1:g.32661AGA[1]
  • NM_000186.4:c.668AGA[1]MANE SELECT
  • NM_001014975.3:c.668AGA[1]
  • NP_000177.2:p.Lys224del
  • NP_001014975.1:p.Lys224del
  • LRG_47:g.32661AGA[1]
  • NC_000001.10:g.196648801AGA[1]
  • NM_000186.3:c.671_673del
Note:
NCBI staff reviewed the sequence information reported in PubMed 16612335 Fig. 3 to determine the location of this allele on the current reference sequence.
Protein change:
K224del
Links:
OMIM: 134370.0014; dbSNP: rs796052138
NCBI 1000 Genomes Browser:
rs796052138
Molecular consequence:
  • NM_000186.4:c.668AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001014975.3:c.668AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Factor H deficiency (CFHD)
Synonyms:
COMPLEMENT FACTOR H DEFICIENCY; CFH DEFICIENCY
Identifiers:
MONDO: MONDO:0012350; MedGen: C0398777; OMIM: 609814

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038301OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).

Licht C, Heinen S, Józsi M, Löschmann I, Saunders RE, Perkins SJ, Waldherr R, Skerka C, Kirschfink M, Hoppe B, Zipfel PF.

Kidney Int. 2006 Jul;70(1):42-50. Epub 2006 Apr 12.

PubMed [citation]
PMID:
16612335

Details of each submission

From OMIM, SCV000038301.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sisters with complement factor H deficiency (CFHD; 609814) and membranoproliferative glomerulonephritis, Licht et al. (2006) identified a homozygous 3-bp deletion in the CFH gene, resulting in deletion of a lysine residue at codon 224. The girls were born of consanguineous Turkish parents; both parents were heterozygous for the mutation. In vitro functional expression studies showed that the mutation affected binding of factor H to C3b and the mutant protein showed defective complement regulation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023