chr12:52914007:G>A Detail (hg19) (KRT5)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr12:52,914,007-52,914,007
hg38	chr12:52,520,223-52,520,223 View the variant detail on this assembly version.

HGVS

KRT5

Type	Transcript	Protein
RefSeq	NM_000424.3:c.74C>T	NP_000415.2:p.Pro25Leu
Ensemble	ENST00000252242.9:c.74C>T	ENST00000252242.9:p.Pro25Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

KRT5

Type	Database	ID	Link
Gene	MIM	148040	OMIM
	HGNC	6442	HGNC
	Ensembl	ENSG00000186081	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2010-11-01	no assertion criteria provided	epidermolysis bullosa simplex with mottled pigmentation	germline unknown	Detail
Pathogenic	2024-01-10	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2018-02-26	criteria provided, single submitter	epidermolysis bullosa simplex	de novo germline	Detail
Pathogenic	2024-02-08	criteria provided, single submitter	KRT5-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and co...	UNIPROT	10494094	Detail
<0.001	epidermolysis bullosa simplex with mottled pigmentation	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
0.482	epidermolysis bullosa simplex with mottled pigmentation	In both families, the heterozygous transition mutation 74C-->T of the keratin...	BeFree	16581562	Detail
<0.001	Ichthyosis hystrix	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
0.482	epidermolysis bullosa simplex with mottled pigmentation	Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L su...	BeFree	10494094	Detail
0.482	epidermolysis bullosa simplex with mottled pigmentation	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
0.482	epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L muta...	BeFree	17229601	Detail
0.361	Epidermolysis bullosa simplex with migratory circinate erythema	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
<0.001	Mottled pigmentation	Two families with mottled pigmentation carried the P25L mutation in KRT5, common...	BeFree	21623745	Detail
<0.001	palmoplantar keratosis	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
0.003	palmoplantar keratosis	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail
0.482	epidermolysis bullosa simplex with mottled pigmentation	NA	CLINVAR		Detail
<0.001	Ichthyosis hystrix	Instead, they have been associated with several distinct clinical phenotypes, su...	BeFree	16417221	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) AND Epidermolysis bullosa simplex with mottled pigmentation	ClinVar	Detail
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) AND not provided	ClinVar	Detail
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) AND Epidermolysis bullosa simplex	ClinVar	Detail
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) AND KRT5-related disorder	ClinVar	Detail
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P2...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which resul...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was ident...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
Two families with mottled pigmentation carried the P25L mutation in KRT5, commonly associated with t...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail
NA	DisGeNET	Detail
Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis ...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs57499817 dbSNP
Genome: hg19
Position: chr12:52,914,007-52,914,007
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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