NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000726020.1

Allele description [Variation Report for NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)]

NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)

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.100T>A (p.Tyr34Asn)
HGVS:
  • NC_000009.12:g.34647106T>A
  • NG_009029.2:g.5518T>A
  • NM_000155.4:c.100T>AMANE SELECT
  • NM_001258332.2:c.-103T>A
  • NP_000146.2:p.Tyr34Asn
  • NC_000009.11:g.34647103T>A
  • NM_000155.3:c.100T>A
  • P07902:p.Tyr34Asn
Links:
UniProtKB: P07902#VAR_068535; dbSNP: rs111033836
NCBI 1000 Genomes Browser:
rs111033836
Molecular consequence:
  • NM_001258332.2:c.-103T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000155.4:c.100T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000341275EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Apr 18, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K.

Hum Mutat. 2012 Jul;33(7):1107-15. doi: 10.1002/humu.22093. Epub 2012 Apr 30.

PubMed [citation]
PMID:
22461411
PMCID:
PMC3431212

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

Viggiano E, Marabotti A, Burlina AP, Cazzorla C, D'Apice MR, Giordano L, Fasan I, Novelli G, Facchiano A, Burlina AB.

Gene. 2015 Apr 1;559(2):112-8. doi: 10.1016/j.gene.2015.01.013. Epub 2015 Jan 13.

PubMed [citation]
PMID:
25592817

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000341275.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center