NM_006079.5(CITED2):c.479A>T (p.His160Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2017)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000678701.1

Allele description [Variation Report for NM_006079.5(CITED2):c.479A>T (p.His160Leu)]

NM_006079.5(CITED2):c.479A>T (p.His160Leu)

Gene:
CITED2:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.1
Genomic location:
Preferred name:
NM_006079.5(CITED2):c.479A>T (p.His160Leu)
HGVS:
  • NC_000006.12:g.139373466T>A
  • NG_016169.1:g.6183A>T
  • NM_001168388.2:c.479A>T
  • NM_001168389.2:c.494A>T
  • NM_006079.5:c.479A>TMANE SELECT
  • NP_001161860.1:p.His160Leu
  • NP_001161861.2:p.His165Leu
  • NP_006070.2:p.His160Leu
  • NC_000006.11:g.139694603T>A
  • NM_006079.4:c.479A>T
Protein change:
H160L
Links:
dbSNP: rs111814036
NCBI 1000 Genomes Browser:
rs111814036
Molecular consequence:
  • NM_001168388.2:c.479A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168389.2:c.494A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006079.5:c.479A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804864Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedUncertain significance
(Aug 1, 2017)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000804864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 3, 2020

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