NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Apr 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001074225.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)]

NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

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.985C>T (p.Arg329Ter)
HGVS:
  • NC_000006.12:g.135457660G>A
  • NG_008643.2:g.45106C>T
  • NM_001134830.2:c.985C>T
  • NM_001134831.2:c.985C>TMANE SELECT
  • NM_001134832.2:c.985C>T
  • NM_001350503.2:c.985C>T
  • NM_001350504.2:c.985C>T
  • NM_017651.4:c.985C>T
  • NM_017651.5:c.985C>T
  • NP_001128302.1:p.Arg329Ter
  • NP_001128303.1:p.Arg329Ter
  • NP_001128304.1:p.Arg329Ter
  • NP_001337432.1:p.Arg329Ter
  • NP_001337433.1:p.Arg329Ter
  • NP_060121.3:p.Arg329Ter
  • NP_060121.3:p.Arg329Ter
  • NC_000006.11:g.135778798G>A
  • NM_001134831.1:c.985C>T
Protein change:
R329*; ARG329TER
Links:
OMIM: 608894.0008; dbSNP: rs201391050
NCBI 1000 Genomes Browser:
rs201391050
Molecular consequence:
  • NM_001134830.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.4:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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
SCV001239798Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Apr 2, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001239798

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239798.1

#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

Support Center