U.S. flag

An official website of the United States government

NM_000169.3(GLA):c.784T>C (p.Trp262Arg) AND Migalastat response

Germline classification:
drug response (1 submission)
Last evaluated:
Jan 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000209767.2

Allele description [Variation Report for NM_000169.3(GLA):c.784T>C (p.Trp262Arg)]

NM_000169.3(GLA):c.784T>C (p.Trp262Arg)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.3(GLA):c.784T>C (p.Trp262Arg)
HGVS:
  • NC_000023.11:g.101398802A>G
  • NG_007119.1:g.14162T>C
  • NM_000169.3:c.784T>CMANE SELECT
  • NM_001199973.2:c.300+3345A>G
  • NM_001199974.2:c.177+6980A>G
  • NM_001406747.1:c.907T>C
  • NM_001406748.1:c.784T>C
  • NP_000160.1:p.Trp262Arg
  • NP_000160.1:p.Trp262Arg
  • NP_001393676.1:p.Trp303Arg
  • NP_001393677.1:p.Trp262Arg
  • LRG_672t1:c.784T>C
  • LRG_672:g.14162T>C
  • LRG_672p1:p.Trp262Arg
  • NC_000023.10:g.100653790A>G
  • NM_000169.2:c.784T>C
  • NR_164783.1:n.863T>C
  • NR_176252.1:n.714T>C
  • NR_176253.1:n.921T>C
  • P06280:p.Trp262Arg
  • p.W262R
Protein change:
W262R
Links:
UniProtKB: P06280#VAR_077403; dbSNP: rs869312154
NCBI 1000 Genomes Browser:
rs869312154
Molecular consequence:
  • NM_001199973.2:c.300+3345A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+6980A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406747.1:c.907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406748.1:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.863T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176252.1:n.714T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176253.1:n.921T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Migalastat response
Synonyms:
1-Deoxygalactonojirimycin response; Galafold response
Identifiers:
MedGen: CN233149

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000246074Albrecht-Kossel-Institute, Medical University Rostock
no assertion criteria provided
drug response
(Jan 1, 2014)
Condition: deoxygalactonojirimycin response
Drug reported used for: Fabry disease		inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PubMed [citation]
PMID:
26415523

Details of each submission

From Albrecht-Kossel-Institute, Medical University Rostock, SCV000246074.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024