NM_000155.4(GALT):c.508-17G>A AND Galactosemia

Clinical significance:Benign (Last evaluated: Sep 16, 2020)

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:
RCV001276269.1

Allele description [Variation Report for NM_000155.4(GALT):c.508-17G>A]

NM_000155.4(GALT):c.508-17G>A

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.508-17G>A
HGVS:
  • NC_000009.12:g.34648098G>A
  • NG_009029.2:g.6510G>A
  • NG_028966.1:g.914G>A
  • NM_000155.4:c.508-17G>AMANE SELECT
  • NM_001258332.2:c.181-17G>A
  • NC_000009.11:g.34648095G>A
  • NM_000155.1:c.508-17G>A
Links:
dbSNP: rs12000481
NCBI 1000 Genomes Browser:
rs12000481
Molecular consequence:
  • NM_000155.4:c.508-17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258332.2:c.181-17G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Galactosemia
Synonyms:
Galactose intolerance
Identifiers:
MONDO: MONDO:0018116; MedGen: C0016952; OMIM: PS230400; Human Phenotype Ontology: HP:0004919

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001462318Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001462318.1

#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: Dec 4, 2021

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