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NM_000169.3(GLA):c.100A>G (p.Asn34Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000593782.4

Allele description [Variation Report for NM_000169.3(GLA):c.100A>G (p.Asn34Asp)]

NM_000169.3(GLA):c.100A>G (p.Asn34Asp)

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.100A>G (p.Asn34Asp)
HGVS:
  • NC_000023.11:g.101407804T>C
  • NG_007119.1:g.5160A>G
  • NG_016327.1:g.4602T>C
  • NM_000169.3:c.100A>GMANE SELECT
  • NM_001199973.2:c.301-4132T>C
  • NM_001199974.2:c.178-4132T>C
  • NM_001406747.1:c.100A>G
  • NM_001406748.1:c.100A>G
  • NM_001406749.1:c.100A>G
  • NP_000160.1:p.Asn34Asp
  • NP_000160.1:p.Asn34Asp
  • NP_001393676.1:p.Asn34Asp
  • NP_001393677.1:p.Asn34Asp
  • NP_001393678.1:p.Asn34Asp
  • LRG_672t1:c.100A>G
  • LRG_672:g.5160A>G
  • LRG_672p1:p.Asn34Asp
  • NC_000023.10:g.100662792T>C
  • NM_000169.2:c.100A>G
  • NR_164783.1:n.122A>G
  • NR_176252.1:n.122A>G
  • NR_176253.1:n.122A>G
Protein change:
N34D
Links:
dbSNP: rs1555987150
NCBI 1000 Genomes Browser:
rs1555987150
Molecular consequence:
  • NM_001199973.2:c.301-4132T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.178-4132T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406747.1:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406748.1:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406749.1:c.100A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.122A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176252.1:n.122A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176253.1:n.122A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000703743Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Nov 16, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000703743.2

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

Last Updated: Sep 1, 2024