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NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro) 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:
RCV000056505.1

Allele description [Variation Report for NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)]

NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)

Gene:
KRT17:keratin 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)
HGVS:
  • NC_000017.11:g.41620728A>G
  • NG_008625.1:g.8903T>C
  • NG_009090.2:g.170985T>C
  • NM_000422.3:c.1112T>CMANE SELECT
  • NP_000413.1:p.Leu371Pro
  • LRG_1345t1:c.1112T>C
  • LRG_1345:g.8903T>C
  • LRG_1345p1:p.Leu371Pro
  • LRG_401:g.170985T>C
  • NC_000017.10:g.39776980A>G
  • NM_000422.2:c.1112T>C
Protein change:
L371P
Links:
dbSNP: rs267607413
NCBI 1000 Genomes Browser:
rs267607413
Molecular consequence:
  • NM_000422.3:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087616Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

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, SCV000087616.1

#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