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NM_000526.5(KRT14):c.815T>G (p.Met272Arg) AND Epidermolysis bullosa simplex, Koebner type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1993
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:
RCV000015721.28

Allele description [Variation Report for NM_000526.5(KRT14):c.815T>G (p.Met272Arg)]

NM_000526.5(KRT14):c.815T>G (p.Met272Arg)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.815T>G (p.Met272Arg)
HGVS:
  • NC_000017.11:g.41583872A>C
  • NG_008624.1:g.8024T>G
  • NM_000526.5:c.815T>GMANE SELECT
  • NP_000517.3:p.Met272Arg
  • NC_000017.10:g.39740124A>C
  • NM_000526.4:c.815T>G
  • P02533:p.Met272Arg
Protein change:
M272R; MET272ARG
Links:
UniProtKB: P02533#VAR_003841; OMIM: 148066.0007; dbSNP: rs61371557
NCBI 1000 Genomes Browser:
rs61371557
Molecular consequence:
  • NM_000526.5:c.815T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex, Koebner type
Synonyms:
Generalized EBS; EBS 2
Identifiers:
MONDO: MONDO:0007554; MedGen: C5561924; Orphanet: 79399; OMIM: 131900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035986OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.

Humphries MM, Sheils D, Lawler M, Farrar GJ, McWilliam P, Kenna P, Bradley DG, Sharp EM, Gaffney EF, Young M, et al.

Genomics. 1990 Jul;7(3):377-81.

PubMed [citation]
PMID:
2365356

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P.

Hum Mutat. 1993;2(1):37-42.

PubMed [citation]
PMID:
7682883

Details of each submission

From OMIM, SCV000035986.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a large 3-generation Irish family (TCDG) with the generalized simplex (Koebner) form of epidermolysis bullosa (EBS1B; 131900), originally reported by Humphries et al. (1990) as family TCD-EBS2, Humphries et al. (1993) identified a c.3028T-G transversion in the KRT14 gene, resulting in a met272-to-arg (M272R) substitution within the central rod domain in the linker region.

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

Last Updated: Aug 5, 2023