NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) AND not provided

Clinical significance:Uncertain significance

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

no assertion criteria provided

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001572774.3

Allele description [Variation Report for NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)]

NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
HGVS:
  • NC_000006.12:g.135427271T>C
  • NG_008643.2:g.75495A>G
  • NM_001134830.2:c.2660A>G
  • NM_001134831.2:c.2660A>GMANE SELECT
  • NM_001134832.2:c.2660A>G
  • NM_001350503.2:c.2660A>G
  • NM_001350504.2:c.2660A>G
  • NM_017651.4:c.2660A>G
  • NM_017651.5:c.2660A>G
  • NP_001128302.1:p.Lys887Arg
  • NP_001128303.1:p.Lys887Arg
  • NP_001128304.1:p.Lys887Arg
  • NP_001337432.1:p.Lys887Arg
  • NP_001337433.1:p.Lys887Arg
  • NP_060121.3:p.Lys887Arg
  • NP_060121.3:p.Lys887Arg
  • NC_000006.11:g.135748409T>C
Protein change:
K887R
Links:
dbSNP: rs200355875
NCBI 1000 Genomes Browser:
rs200355875
Molecular consequence:
  • NM_001134830.2:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.4:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2660A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001797660Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001958554Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001966959Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797660.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001958554.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001966959.1

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

Last Updated: Nov 27, 2021

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