NM_000155.4(GALT):c.650T>C (p.Leu217Pro) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Clinical significance:Pathogenic (Last evaluated: Sep 26, 2019)

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:
RCV000022172.4

Allele description [Variation Report for NM_000155.4(GALT):c.650T>C (p.Leu217Pro)]

NM_000155.4(GALT):c.650T>C (p.Leu217Pro)

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.650T>C (p.Leu217Pro)
HGVS:
  • NC_000009.12:g.34648419T>C
  • NG_009029.2:g.6831T>C
  • NG_028966.1:g.1235T>C
  • NM_000155.4:c.650T>CMANE SELECT
  • NM_001258332.2:c.323T>C
  • NP_000146.2:p.Leu217Pro
  • NP_001245261.1:p.Leu108Pro
  • NC_000009.11:g.34648416T>C
  • NM_000155.2:c.650T>C
  • P07902:p.Leu217Pro
Protein change:
L108P
Links:
UniProtKB: P07902#VAR_002599; dbSNP: rs111033741
NCBI 1000 Genomes Browser:
rs111033741
Molecular consequence:
  • NM_000155.4:c.650T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.323T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (GALAC1)
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001133120Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedPathogenic
(Sep 26, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001133120.1

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

Last Updated: Nov 27, 2021

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