NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000056951.1

Allele description [Variation Report for NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys)]

NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys)

Genes:
KRT81:keratin 81, type II [Gene - OMIM - HGNC]
KRT86:keratin 86, type II [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys)
HGVS:
  • NC_000012.12:g.52287145C>T
  • NG_008184.1:g.9371G>A
  • NM_002281.3:c.1204G>A
  • NP_002272.2:p.Glu402Lys
  • NC_000012.11:g.52680929C>T
Protein change:
E402K; GLU402LYS
Links:
OMIM: 602153.0002; dbSNP: 56821304
GMAF:
0.0004(G), 56821304
NCBI 1000 Genomes Browser:
rs56821304
Molecular consequence:
  • NM_002281.3:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088064Epithelial Biology; Institute of Medical Biology, Singaporeno assertion providednot 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, SCV000088064.1

#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: Jan 7, 2016