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NM_000526.5(KRT14):c.397G>C (p.Val133Leu) 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:
RCV000056728.1

Allele description [Variation Report for NM_000526.5(KRT14):c.397G>C (p.Val133Leu)]

NM_000526.5(KRT14):c.397G>C (p.Val133Leu)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.397G>C (p.Val133Leu)
HGVS:
  • NC_000017.11:g.41586438C>G
  • NG_008624.1:g.5458G>C
  • NM_000526.5:c.397G>CMANE SELECT
  • NP_000517.3:p.Val133Leu
  • NC_000017.10:g.39742690C>G
  • NM_000526.4:c.397G>C
  • P02533:p.Val133Leu
Protein change:
V133L
Links:
UniProtKB: P02533#VAR_023723; dbSNP: rs61027685
NCBI 1000 Genomes Browser:
rs61027685
Molecular consequence:
  • NM_000526.5:c.397G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087841Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022