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NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) 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:
RCV000056997.1

Allele description [Variation Report for NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)]

NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)

Gene:
KRT6A:keratin 6A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)
HGVS:
  • NC_000012.12:g.52488346A>C
  • NG_008298.1:g.10052T>G
  • NM_005554.4:c.1406T>GMANE SELECT
  • NP_005545.1:p.Leu469Arg
  • LRG_1294t1:c.1406T>G
  • LRG_1294:g.10052T>G
  • LRG_1294p1:p.Leu469Arg
  • NC_000012.11:g.52882130A>C
  • NM_005554.3:c.1406T>G
  • P02538:p.Leu469Arg
Protein change:
L469R; LEU469ARG
Links:
UniProtKB: P02538#VAR_017076; OMIM: 148041.0004; dbSNP: rs57052654
NCBI 1000 Genomes Browser:
rs57052654
Molecular consequence:
  • NM_005554.4:c.1406T>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
SCV000088110Epithelial 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, SCV000088110.1

#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