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NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) AND Mucolipidosis type II

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 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:
RCV000032289.1

Allele description

NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)
HGVS:
  • NC_000012.12:g.101770112_101770115dup
  • NG_021243.1:g.65754_65757dup
  • NM_024312.5:c.1191_1194dupMANE SELECT
  • NP_077288.2:p.Ser399fs
  • NC_000012.11:g.102163890_102163893dup
  • NM_024312.4:c.1191_1194dupGCTG
Protein change:
S399fs
Links:
dbSNP: rs281864971
NCBI 1000 Genomes Browser:
rs281864971
Molecular consequence:
  • NM_024312.5:c.1191_1194dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucolipidosis type II
Synonyms:
ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055933GeneReviews
no assertion criteria provided
pathologic
(May 10, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000055933.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 13, 2021