NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) AND Bullous ichthyosiform erythroderma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 1994
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:: RCV000015676.22

Allele description [Variation Report for NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)]

NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)

Genes:

KRT10-AS1:KRT10 antisense RNA 1 [Gene - HGNC]
KRT10:keratin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)

Other names:

L103Q

HGVS:

NC_000017.11:g.40819565A>T
NG_008405.1:g.8047T>A
NM_000421.5:c.1325T>AMANE SELECT
NM_001379366.1:c.1325T>A
NP_000412.4:p.Leu442Gln
NP_001366295.1:p.Leu442Gln
NC_000017.10:g.38975817A>T
NM_000421.3:c.1325T>A
P13645:p.Leu442Gln

Protein change:

L442Q; LEU103GLN

Links:

UniProtKB: P13645#VAR_003833; OMIM: 148080.0009; dbSNP: rs58026994

NCBI 1000 Genomes Browser:

rs58026994

Molecular consequence:

NM_000421.5:c.1325T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379366.1:c.1325T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bullous ichthyosiform erythroderma
Synonyms:: Bullous erythroderma ichthyosiformis congenita of Brocq; Bullous ichthyosiform erythroderma congenita; Epidermolytic Hyperkeratosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007239; MedGen: C0079153; Orphanet: 312; OMIM: PS113800; Human Phenotype Ontology: HP:0007475

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035941	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035941

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1994)

germline

literature only

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

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

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.

Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ.

Am J Hum Genet. 1994 Feb;54(2):179-90.

PubMed [citation]

PMID:: 7508181
PMCID:: PMC1918158

Details of each submission

From OMIM, SCV000035941.1

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

Description

In a family with epidermolytic hyperkeratosis (113800), Chipev et al. (1994) identified a leu103-to-gln mutation in the conserved region late in the 2B rod domain of keratin-10.

#	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: Apr 15, 2024

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