NM_001134831.2(AHI1):c.2988del (p.Val997fs) AND Retinal dystrophy

Clinical significance:Likely pathogenic (Last evaluated: Nov 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075290.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2988del (p.Val997fs)]

NM_001134831.2(AHI1):c.2988del (p.Val997fs)

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
HGVS:
  • NC_000006.12:g.135404954del
  • NG_008643.2:g.97815del
  • NM_001134830.2:c.2988del
  • NM_001134831.2:c.2988delMANE SELECT
  • NM_001134832.2:c.2988del
  • NM_001350503.2:c.2988del
  • NM_001350504.2:c.2988del
  • NM_017651.4:c.2988del
  • NM_017651.5:c.2988del
  • NP_001128302.1:p.Val997fs
  • NP_001128303.1:p.Val997fs
  • NP_001128304.1:p.Val997fs
  • NP_001337432.1:p.Val997fs
  • NP_001337433.1:p.Val997fs
  • NP_060121.3:p.Val997fs
  • NP_060121.3:p.Val997fs
  • NC_000006.11:g.135726089delT
  • NC_000006.11:g.135726092del
  • NM_001134830.1:c.2988delA
  • NM_017651.4:c.2988delA
Protein change:
V997fs
Links:
dbSNP: rs755246809
NCBI 1000 Genomes Browser:
rs755246809
Molecular consequence:
  • NM_001134830.2:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134831.2:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134832.2:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350503.2:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350504.2:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017651.4:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017651.5:c.2988del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001240906Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 13, 2017)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240906

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240906.1

#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 20, 2021

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