NM_000155.4(GALT):c.1052del (p.Pro351fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000723535.1

Allele description [Variation Report for NM_000155.4(GALT):c.1052del (p.Pro351fs)]

NM_000155.4(GALT):c.1052del (p.Pro351fs)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.1052del (p.Pro351fs)
HGVS:
  • NC_000009.12:g.34649557del
  • NG_009029.2:g.7969del
  • NG_028966.1:g.2373del
  • NM_000155.4:c.1052delMANE SELECT
  • NM_001258332.2:c.725del
  • NP_000146.2:p.Pro351fs
  • NP_001245261.1:p.Pro242fs
  • NC_000009.11:g.34649554del
  • NM_000155.2:c.1052delC
  • NM_000155.3:c.1052delC
Protein change:
P242fs
Links:
dbSNP: rs111033813
NCBI 1000 Genomes Browser:
rs111033813
Molecular consequence:
  • NM_000155.4:c.1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258332.2:c.725del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000224783EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(May 28, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000224783.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 20, 2021

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