NM_006121.3(KRT1):c.221A>T (p.Lys74Ile)

Variation ID: Help
15910
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 1, 1994
Number of submission(s):
2
Condition(s):
  • Palmoplantar keratoderma, nonepidermolytic [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_006121.3(KRT1):c.221A>T (p.Lys74Ile)

Allele ID:
30949
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.1
Genomic location:
  • Chr12: 52680128 (on Assembly GRCh38)
  • Chr12: 53073912 (on Assembly GRCh37)
Protein change:
K73I, K74I
HGVS:
  • NG_008364.1:g.5280A>T
  • NM_006121.3:c.221A>T
  • NP_006112.3:p.Lys74Ile
  • NC_000012.12:g.52680128T>A (GRCh38)
  • NC_000012.11:g.53073912T>A (GRCh37)
  • P04264:p.Lys74Ile
Links:
NCBI 1000 Genomes Browser:
rs57977969
Molecular consequence:
NM_006121.3:c.221A>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 1, 1994)
no assertion criteria providedliterature only
  • Palmoplantar keratoderma, nonepidermolytic[MedGen | OMIM]
germlineOMIMSCV000037533.1
not providedno assertion providedliterature onlynot provided
    Epithelial Biology; Institute of Medical Biology, SingaporeSCV000088193.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    Epithelial Biology; Institute of Medical Biology, Singaporenot providednot providednot providednot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Nov 30, 2017