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NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) AND Epidermolysis bullosa simplex

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 18, 2010
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001352723.9

Allele description [Variation Report for NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)]

NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)

Gene:
KRT5:keratin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)
HGVS:
  • NC_000012.12:g.52519789C>T
  • NG_008297.1:g.5671G>A
  • NM_000424.4:c.508G>AMANE SELECT
  • NP_000415.2:p.Glu170Lys
  • NC_000012.11:g.52913573C>T
  • NM_000424.3:c.508G>A
  • P13647:p.Glu170Lys
Protein change:
E170K; GLU170LYS
Links:
UniProtKB: P13647#VAR_026537; OMIM: 148040.0020; dbSNP: rs59115483
NCBI 1000 Genomes Browser:
rs59115483
Molecular consequence:
  • NM_000424.4:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex
Synonyms:
Epidermolysis bullosa simplex, Weber-Cockayne type (subtype); Epidermolysis bullosa simplex, Dowling-Meara type (subtype); Epidermolysis bullosa simplex with mottled pigmentation (subtype)
Identifiers:
MONDO: MONDO:0017610; MedGen: C0079298; OMIM: PS131760

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547400Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 18, 2010) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.

Yuan H, Liu F, Xiao B, He Y, Liang Y, Liu J.

J Eur Acad Dermatol Venereol. 2008 Dec;22(12):1510-2. doi: 10.1111/j.1468-3083.2008.02687.x. Epub 2008 Apr 1. No abstract available.

PubMed [citation]
PMID:
18384561

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biomedical Innovation Departament, CIEMAT, SCV001547400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024