NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001705372.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)]

NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)

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.2382A>G (p.Lys794=)
HGVS:
  • NC_000006.12:g.135429992T>C
  • NG_008643.2:g.72774A>G
  • NM_001134830.2:c.2382A>G
  • NM_001134831.2:c.2382A>GMANE SELECT
  • NM_001134832.2:c.2382A>G
  • NM_001350503.2:c.2382A>G
  • NM_001350504.2:c.2382A>G
  • NM_017651.4:c.2382A>G
  • NM_017651.5:c.2382A>G
  • NP_001128302.1:p.Lys794=
  • NP_001128303.1:p.Lys794=
  • NP_001128304.1:p.Lys794=
  • NP_001337432.1:p.Lys794=
  • NP_001337433.1:p.Lys794=
  • NP_060121.3:p.Lys794=
  • NP_060121.3:p.Lys794=
  • NC_000006.11:g.135751130T>C
Links:
dbSNP: rs191682790
NCBI 1000 Genomes Browser:
rs191682790
Molecular consequence:
  • NM_001134830.2:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001134831.2:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001134832.2:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350503.2:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350504.2:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017651.4:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017651.5:c.2382A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000715419GeneDxcriteria provided, single submitter
Likely benign
(Jun 12, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000715419.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 16453322)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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