NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) AND Retinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Aug 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001074429.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)]

NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
HGVS:
  • NC_000008.11:g.43192383C>T
  • NG_009552.1:g.56935C>T
  • NM_001363227.2:c.1330C>T
  • NM_001363228.2:c.1138C>T
  • NM_001363229.2:c.466C>T
  • NM_152419.3:c.1330C>TMANE SELECT
  • NP_001350156.1:p.Arg444Cys
  • NP_001350157.1:p.Arg380Cys
  • NP_001350158.1:p.Arg156Cys
  • NP_689632.2:p.Arg444Cys
  • NC_000008.10:g.43047526C>T
  • NM_152419.2:c.1330C>T
  • p.R444C
Protein change:
R156C
Links:
Molecular consequence:
  • NM_001363227.2:c.1330C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.1138C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1330C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001240013Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Aug 16, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240013

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240013.1

#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: Sep 23, 2021

Support Center