NM_000155.4(GALT):c.542C>T (p.Ser181Phe) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 4, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000022144.2

Allele description

NM_000155.4(GALT):c.542C>T (p.Ser181Phe)

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.542C>T (p.Ser181Phe)

HGVS:

NC_000009.12:g.34648149C>T
NG_009029.2:g.6561C>T
NG_028966.1:g.965C>T
NM_000155.4:c.542C>TMANE SELECT
NM_001258332.2:c.215C>T
NP_000146.2:p.Ser181Phe
NP_001245261.1:p.Ser72Phe
M60091.1:c.542C>T
NC_000009.11:g.34648146C>T
P07902:p.Ser181Phe

Protein change:

S181F

Links:

UniProtKB: P07902#VAR_068827; dbSNP: rs367543259

NCBI 1000 Genomes Browser:

rs367543259

Molecular consequence:

NM_000155.4:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001258332.2:c.215C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000042822	Research and Development, ARUP Laboratories	no assertion criteria provided	Pathogenic (Dec 4, 2012)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000042822

Research and Development, ARUP Laboratories

no assertion criteria provided

Pathogenic
(Dec 4, 2012)

not provided

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042822.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 25, 2021

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