NM_000153.4(GALC):c.53C>T (p.Thr18Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 29, 2017)

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:
RCV000675271.1

Allele description [Variation Report for NM_000153.4(GALC):c.53C>T (p.Thr18Ile)]

NM_000153.4(GALC):c.53C>T (p.Thr18Ile)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
HGVS:
  • NC_000014.9:g.87993112G>A
  • NG_011853.2:g.5452C>T
  • NM_000153.4:c.53C>TMANE SELECT
  • NM_001201401.1:c.53C>T
  • NM_001201402.1:c.117+271C>T
  • NP_000144.2:p.Thr18Ile
  • NP_001188330.1:p.Thr18Ile
  • NC_000014.8:g.88459456G>A
  • NM_000153.3:c.53C>T
Protein change:
T18I
Links:
dbSNP: rs755139799
NCBI 1000 Genomes Browser:
rs755139799
Molecular consequence:
  • NM_001201402.1:c.117+271C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000153.4:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201401.1:c.53C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800920Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significance
(Dec 29, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800920.1

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

Last Updated: May 19, 2021

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