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NM_000526.5(KRT14):c.815T>G (p.Met272Arg) 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:
RCV000056753.1

Allele description [Variation Report for NM_000526.5(KRT14):c.815T>G (p.Met272Arg)]

NM_000526.5(KRT14):c.815T>G (p.Met272Arg)

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.815T>G (p.Met272Arg)
HGVS:
  • NC_000017.11:g.41583872A>C
  • NG_008624.1:g.8024T>G
  • NM_000526.5:c.815T>GMANE SELECT
  • NP_000517.3:p.Met272Arg
  • NC_000017.10:g.39740124A>C
  • NM_000526.4:c.815T>G
  • P02533:p.Met272Arg
Protein change:
M272R; MET272ARG
Links:
UniProtKB: P02533#VAR_003841; OMIM: 148066.0007; dbSNP: rs61371557
NCBI 1000 Genomes Browser:
rs61371557
Molecular consequence:
  • NM_000526.5:c.815T>G - 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
SCV000087866Epithelial 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, SCV000087866.1

#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: Aug 5, 2023