NM_000526.5(KRT14):c.427del (p.Leu143fs) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000056737.1

Allele description [Variation Report for NM_000526.5(KRT14):c.427del (p.Leu143fs)]

NM_000526.5(KRT14):c.427del (p.Leu143fs)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000526.5(KRT14):c.427del (p.Leu143fs)

HGVS:

NC_000017.11:g.41586409del
NG_008624.1:g.5488del
NM_000526.5:c.427delMANE SELECT
NP_000517.3:p.Leu143fs
NC_000017.10:g.39742661del
NM_000526.4:c.427delC

Protein change:

L143fs

Links:

dbSNP: rs57180772

NCBI 1000 Genomes Browser:

rs57180772

Molecular consequence:

NM_000526.5:c.427del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087850	Epithelial Biology; Institute of Medical Biology, Singapore	no classification provided	not provided	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087850

Epithelial Biology; Institute of Medical Biology, Singapore

no classification provided

not provided

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	1	not provided	literature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087850.1

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

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

Last Updated: Apr 23, 2022

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