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NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) 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:
RCV000128645.1

Allele description [Variation Report for NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)]

NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)

Gene:
KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
HGVS:
  • NC_000010.10:g.76788347_76788350del
  • NC_000010.11:g.75028589TCTA[1]
  • NG_032048.1:g.207177TCTA[1]
  • NM_001256468.2:c.3220_3223del
  • NM_001256469.2:c.2893_2896del
  • NM_001370132.1:c.2731_2734del
  • NM_001370133.1:c.2080_2083del
  • NM_001370134.1:c.1684_1687del
  • NM_001370135.1:c.1426_1429del
  • NM_001370136.1:c.3769_3772del
  • NM_001370137.1:c.3769_3772del
  • NM_001370138.1:c.3220_3223del
  • NM_001370139.1:c.2893_2896del
  • NM_001370140.1:c.2893_2896del
  • NM_001370141.1:c.2893_2896del
  • NM_001370142.1:c.2893_2896del
  • NM_001370143.1:c.2704_2707del
  • NM_001370144.1:c.2704_2707del
  • NM_012330.4:c.3769_3772delMANE SELECT
  • NP_001243397.1:p.Lys1075fs
  • NP_001243398.1:p.Lys966fs
  • NP_001357061.1:p.Lys912fs
  • NP_001357062.1:p.Lys695fs
  • NP_001357063.1:p.Lys563fs
  • NP_001357064.1:p.Lys477fs
  • NP_001357065.1:p.Lys1258fs
  • NP_001357066.1:p.Lys1258fs
  • NP_001357067.1:p.Lys1075fs
  • NP_001357068.1:p.Lys966fs
  • NP_001357069.1:p.Lys966fs
  • NP_001357070.1:p.Lys966fs
  • NP_001357071.1:p.Lys966fs
  • NP_001357072.1:p.Lys903fs
  • NP_001357073.1:p.Lys903fs
  • NP_036462.2:p.Lys1258fs
  • NC_000010.10:g.76788347TCTA[1]
  • NC_000010.10:g.76788347_76788350del
  • NC_000010.10:g.76788347_76788350delTCTA
  • NM_012330.2:c.3769_3772delTCTA
  • NM_012330.3:c.3769_3772del
  • NM_012330.3:c.3769_3772delTCTA
  • p.Lys1258GlyfsX13
Protein change:
K1075fs
Links:
OMIM: 605880.0006; dbSNP: rs199470470
NCBI 1000 Genomes Browser:
rs199470470
Molecular consequence:
  • NM_001256468.2:c.3220_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256469.2:c.2893_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370132.1:c.2731_2734del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370133.1:c.2080_2083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370134.1:c.1684_1687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370135.1:c.1426_1429del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370136.1:c.3769_3772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370137.1:c.3769_3772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370138.1:c.3220_3223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370139.1:c.2893_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370140.1:c.2893_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370141.1:c.2893_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370142.1:c.2893_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370143.1:c.2704_2707del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370144.1:c.2704_2707del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012330.4:c.3769_3772del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172285Lee Lab(KAT6B), Baylor College of Medicine
no classification provided
not providedunknownnot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.

Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.

PubMed [citation]
PMID:
22265014
PMCID:
PMC3276659

Details of each submission

From Lee Lab(KAT6B), Baylor College of Medicine, SCV000172285.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024