NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) AND Leber congenital amaurosis 1

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000989685.1

Allele description [Variation Report for NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)]

NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)

Gene:
AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
HGVS:
  • NC_000017.11:g.6428382T>A
  • NG_008474.1:g.11818A>T
  • NM_001033054.3:c.277-1325A>T
  • NM_001033055.3:c.221A>T
  • NM_001285399.3:c.365A>T
  • NM_001285400.3:c.335A>T
  • NM_001285401.3:c.401A>T
  • NM_001285402.2:c.284A>T
  • NM_001285403.3:c.401A>T
  • NM_014336.5:c.401A>TMANE SELECT
  • NP_001028227.1:p.Tyr74Phe
  • NP_001272328.1:p.Tyr122Phe
  • NP_001272329.1:p.Tyr112Phe
  • NP_001272330.1:p.Tyr134Phe
  • NP_001272331.1:p.Tyr95Phe
  • NP_001272332.1:p.Tyr134Phe
  • NP_055151.3:p.Tyr134Phe
  • NC_000017.10:g.6331702T>A
  • NM_014336.3:c.401A>T
  • NM_014336.4:c.401A>T
  • Q9NZN9:p.Tyr134Phe
Protein change:
Y112F
Links:
UniProtKB: Q9NZN9#VAR_050627; dbSNP: rs16955851
NCBI 1000 Genomes Browser:
rs16955851
Molecular consequence:
  • NM_001033054.3:c.277-1325A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033055.3:c.221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285399.3:c.365A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285400.3:c.335A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285401.3:c.401A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285402.2:c.284A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285403.3:c.401A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014336.5:c.401A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001140220Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140220.1

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

Last Updated: Jul 10, 2021

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