NM_000224.3(KRT18):c.383A>T (p.His128Leu) AND Cirrhosis, cryptogenic

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 2003
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:: RCV000015686.30

Allele description [Variation Report for NM_000224.3(KRT18):c.383A>T (p.His128Leu)]

NM_000224.3(KRT18):c.383A>T (p.His128Leu)

Genes:

LOC106096416:KRT18 locus control region [Gene]
KRT18:keratin 18 [Gene - OMIM - HGNC]
KRT8:keratin 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000224.3(KRT18):c.383A>T (p.His128Leu)

Other names:

H127L

HGVS:

NC_000012.12:g.52949556A>T
NG_008351.1:g.5686A>T
NG_008402.2:g.5311T>A
NG_042295.1:g.1618A>T
NG_042295.2:g.1892A>T
NM_000224.3:c.383A>TMANE SELECT
NM_001256293.2:c.-47+159T>A
NM_199187.2:c.383A>T
NP_000215.1:p.His128Leu
NP_954657.1:p.His128Leu
NC_000012.11:g.53343340A>T
NM_000224.2:c.383A>T
NR_045962.2:n.305T>A
P05783:p.His128Leu

Protein change:

H128L; HIS127LEU

Links:

UniProtKB: P05783#VAR_003852; OMIM: 148070.0001; dbSNP: rs57758506

NCBI 1000 Genomes Browser:

rs57758506

Molecular consequence:

NM_001256293.2:c.-47+159T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000224.3:c.383A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_199187.2:c.383A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045962.2:n.305T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cirrhosis, cryptogenic
Identifiers:: MedGen: C0267809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035951	OMIM	no assertion criteria provided	Pathogenic (May 13, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9011570, 12724528

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035951

OMIM

no assertion criteria provided

Pathogenic
(May 13, 2003)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of human keratin 18 in association with cryptogenic cirrhosis.

Ku NO, Wright TL, Terrault NA, Gish R, Omary MB.

J Clin Invest. 1997 Jan 1;99(1):19-23.

PubMed [citation]

PMID:: 9011570
PMCID:: PMC507762

Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.

Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB.

Proc Natl Acad Sci U S A. 2003 May 13;100(10):6063-8. Epub 2003 Apr 30.

PubMed [citation]

PMID:: 12724528
PMCID:: PMC156326

Details of each submission

From OMIM, SCV000035951.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Among 120 patients with cirrhosis of undetermined cause (see 215600), Ku et al. (1997) found 1 patient with a heterozygous A-to-T transversion in the KRT18 gene that resulted in a his127-to-leu substitution. The mutation was germline since sequencing of amplified genomic DNA, isolated from a blood sample of the daughter of the patient, showed the same H127L mutation in heterozygous form.

Ku et al. (2003) found a his127-to-leu mutation in noncryptogenic cirrhosis and concluded that the mutation functions as a susceptibility gene.

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

Last Updated: Nov 10, 2024

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