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NM_000155.4(GALT):c.812A>G (p.Glu271Gly) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 5, 2024
Review status:
no classifications from unflagged records
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000724474.13

Allele description [Variation Report for NM_000155.4(GALT):c.812A>G (p.Glu271Gly)]

NM_000155.4(GALT):c.812A>G (p.Glu271Gly)

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.812A>G (p.Glu271Gly)
HGVS:
  • NC_000009.12:g.34648886A>G
  • NG_009029.2:g.7298A>G
  • NG_028966.1:g.1702A>G
  • NM_000155.4:c.812A>GMANE SELECT
  • NM_001258332.2:c.485A>G
  • NP_000146.2:p.Glu271Gly
  • NP_001245261.1:p.Glu162Gly
  • NP_001245261.1:p.Glu162Gly
  • NC_000009.11:g.34648883A>G
  • NM_001258332.1:c.485A>G
Protein change:
E162G
Links:
dbSNP: rs111033765
NCBI 1000 Genomes Browser:
rs111033765
Molecular consequence:
  • NM_000155.4:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258332.2:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.

Zekanowski C, Nowacka M, Radomyska B, Cabalska B.

J Med Screen. 2001;8(3):132-6.

PubMed [citation]
PMID:
11678552

Details of each submission

From Eurofins Ntd Llc (ga), SCV000232474.5

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000232474Eurofins Ntd Llc (ga)
flagged submission
Reason: Older claim that does not account for recent evidence
Notes: None

(EGL Classification Definitions 2015)		Uncertain significance
(Sep 29, 2015) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Last Updated: Nov 10, 2024