NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) AND Retinitis pigmentosa 73

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2020)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001250773.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)]

NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
HGVS:
  • NC_000008.11:g.43192324dup
  • NG_009552.1:g.56876dup
  • NM_001363227.2:c.1271dup
  • NM_001363228.2:c.1079dup
  • NM_001363229.2:c.407dup
  • NM_152419.3:c.1271dupMANE SELECT
  • NP_001350156.1:p.Ile425fs
  • NP_001350157.1:p.Ile361fs
  • NP_001350158.1:p.Ile137fs
  • NP_689632.2:p.Ile425fs
  • NC_000008.10:g.43047462_43047463insG
  • NC_000008.10:g.43047467dup
  • NM_152419.2:c.1271dupG
Protein change:
I137fs
Links:
dbSNP: rs1804565177
NCBI 1000 Genomes Browser:
rs1804565177
Molecular consequence:
  • NM_001363227.2:c.1271dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363228.2:c.1079dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363229.2:c.407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152419.3:c.1271dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 73 (RP73)
Identifiers:
MONDO: MONDO:0014687; MedGen: C4225287; Orphanet: 791; OMIM: 616544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001426187Inherited Eye Disorders lab, UCL Institute of Ophthalmologyno assertion criteria providedPathogenic
(Jul 1, 2020)
inheritedclinical testing

Summary from all submissions

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

Details of each submission

From Inherited Eye Disorders lab, UCL Institute of Ophthalmology, SCV001426187.1

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

Last Updated: Nov 27, 2021

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