NM_014336.5(AIPL1):c.267C>T (p.Cys89=) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000081613.8

Allele description [Variation Report for NM_014336.5(AIPL1):c.267C>T (p.Cys89=)]

NM_014336.5(AIPL1):c.267C>T (p.Cys89=)

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.267C>T (p.Cys89=)
HGVS:
  • NC_000017.11:g.6433928G>A
  • NG_008474.1:g.6272C>T
  • NM_001033054.3:c.267C>T
  • NM_001033055.3:c.96+1081C>T
  • NM_001285399.3:c.231C>T
  • NM_001285400.3:c.201C>T
  • NM_001285401.3:c.267C>T
  • NM_001285402.2:c.150C>T
  • NM_001285403.3:c.267C>T
  • NM_014336.5:c.267C>TMANE SELECT
  • NP_001028226.1:p.Cys89=
  • NP_001272328.1:p.Cys77=
  • NP_001272329.1:p.Cys67=
  • NP_001272330.1:p.Cys89=
  • NP_001272331.1:p.Cys50=
  • NP_001272332.1:p.Cys89=
  • NP_055151.3:p.Cys89=
  • NC_000017.10:g.6337248G>A
  • NM_014336.3:c.267C>T
  • NM_014336.4:c.267C>T
  • NP_055151.3:p.(=)
Links:
dbSNP: rs62653020
NCBI 1000 Genomes Browser:
rs62653020
Molecular consequence:
  • NM_001033055.3:c.96+1081C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033054.3:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285399.3:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285400.3:c.201C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285401.3:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285402.2:c.150C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285403.3:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014336.5:c.267C>T - 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
SCV000118361Retina Internationalno assertion providednot providednot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000118361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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