NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) AND not provided

Clinical significance:Pathogenic

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

no assertion criteria provided

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV001698972.3

Allele description [Variation Report for NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)]

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

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.2174G>A (p.Trp725Ter)
HGVS:
  • NC_000006.12:g.135433119C>T
  • NG_008643.2:g.69647G>A
  • NM_001134830.2:c.2174G>A
  • NM_001134831.2:c.2174G>AMANE SELECT
  • NM_001134832.2:c.2174G>A
  • NM_001350503.2:c.2174G>A
  • NM_001350504.2:c.2174G>A
  • NM_017651.5:c.2174G>A
  • NP_001128302.1:p.Trp725Ter
  • NP_001128303.1:p.Trp725Ter
  • NP_001128304.1:p.Trp725Ter
  • NP_001337432.1:p.Trp725Ter
  • NP_001337433.1:p.Trp725Ter
  • NP_060121.3:p.Trp725Ter
  • NP_060121.3:p.Trp725Ter
  • NC_000006.11:g.135754257C>T
  • NM_001134831.1:c.2174G>A
  • NM_017651.4:c.2174G>A
Protein change:
W725*
Links:
dbSNP: rs587783013
NCBI 1000 Genomes Browser:
rs587783013
Molecular consequence:
  • NM_001134830.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001921644Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001930362Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001954328Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001969293Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001921644.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930362.1

#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, SCV001954328.1

#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, SCV001969293.1

#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: Dec 4, 2021

Support Center