NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) AND not provided

Clinical significance:Uncertain significance

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:
RCV001357319.1

Allele description [Variation Report for NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)]

NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
HGVS:
  • NC_000007.14:g.65974532G>A
  • NG_016197.1:g.12783C>T
  • NM_000181.4:c.1238C>TMANE SELECT
  • NM_001284290.2:c.800C>T
  • NM_001293104.2:c.668C>T
  • NM_001293105.2:c.581C>T
  • NP_000172.2:p.Ala413Val
  • NP_001271219.1:p.Ala267Val
  • NP_001280033.1:p.Ala223Val
  • NP_001280034.1:p.Ala194Val
  • NC_000007.13:g.65439519G>A
  • NM_000181.3:c.1238C>T
  • NR_120531.2:n.1268C>T
Protein change:
A194V
Links:
Molecular consequence:
  • NM_000181.4:c.1238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284290.2:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293104.2:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293105.2:c.581C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.1268C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001552759Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552759.1

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

Last Updated: Oct 8, 2021

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