U.S. flag

An official website of the United States government

NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp) AND GNPTG-mucolipidosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 2020
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:
RCV001831129.1

Allele description [Variation Report for NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)]

NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)

Gene:
GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp)
HGVS:
  • NC_000016.10:g.1362233C>T
  • NG_016985.1:g.15335C>T
  • NG_033129.1:g.57472G>A
  • NM_032520.5:c.439C>TMANE SELECT
  • NP_115909.1:p.Arg147Trp
  • NC_000016.9:g.1412234C>T
Protein change:
R147W
Links:
dbSNP: rs775985395
NCBI 1000 Genomes Browser:
rs775985395
Molecular consequence:
  • NM_032520.5:c.439C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GNPTG-mucolipidosis
Synonyms:
ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009652; MedGen: C1854896; Orphanet: 577; OMIM: 252605

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002093798Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jun 9, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002093798.1

#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: Sep 29, 2024