NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) AND Epidermolysis bullosa simplex Dowling-Meara type

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2011
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:: RCV000020296.2

Allele description

NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)

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.1429G>A (p.Glu477Lys)

HGVS:

NC_000012.12:g.52516647C>T
NG_008297.1:g.8813G>A
NM_000424.4:c.1429G>AMANE SELECT
NP_000415.2:p.Glu477Lys
NC_000012.11:g.52910431C>T
NM_000424.3:c.1429G>A
P13647:p.Glu477Lys

Protein change:

E477K

Links:

UniProtKB: P13647#VAR_010467; dbSNP: rs59190510

NCBI 1000 Genomes Browser:

rs59190510

Molecular consequence:

NM_000424.4:c.1429G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epidermolysis bullosa simplex Dowling-Meara type
Synonyms:: Epidermolysis bullosa herpetiformis, Dowling-Meara; EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE
Identifiers:: MONDO: MONDO:0007550; MedGen: C0079295; Orphanet: 79396; OMIM: 131760

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040662	GeneReviews	no assertion criteria provided	pathologic (Sep 1, 2011)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040662

GeneReviews

no assertion criteria provided

pathologic
(Sep 1, 2011)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000040662.2

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 13, 2021

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