NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) AND Mucolipidosis

Germline classification:: Pathogenic (1 submission)
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:: RCV003984809.2

Allele description [Variation Report for NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)]

NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)

Gene:

GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)

HGVS:

NC_000012.12:g.101764231del
NG_021243.1:g.71644del
NM_024312.5:c.2693delMANE SELECT
NP_077288.2:p.Lys898fs
NC_000012.11:g.102158002del
NC_000012.11:g.102158009del
NM_024312.4:c.2693delA
NM_024312.5:c.2693delAMANE SELECT

Protein change:

K898fs

Links:

dbSNP: rs281864999

NCBI 1000 Genomes Browser:

rs281864999

Molecular consequence:

NM_024312.5:c.2693del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mucolipidosis
Synonyms:: Mucolipidoses
Identifiers:: MONDO: MONDO:0019248; MedGen: C0026697

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004041873	Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center	no assertion criteria provided	Pathogenic	inherited	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041873

Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center

no assertion criteria provided

Pathogenic

inherited

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, SCV004041873.1

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

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

Last Updated: Jun 23, 2024

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