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NM_001204526.1:c.1_185del AND SSR4-congenital disorder of glycosylation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2018
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:
RCV001267831.1

Allele description [Variation Report for NM_001204526.1:c.1_185del]

NM_001204526.1:c.1_185del

Gene:
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NM_001204526.1:c.1_185del
HGVS:
NM_001204526.1:c.1_185del
Note:
The genomic location for this variant will not be computed from alignment of the transcript sequence to the genome until there is experimental evidence for the genomic basis of the deletion.
Observations:
1

Condition(s)

Name:
SSR4-congenital disorder of glycosylation
Synonyms:
CDG IY; Congenital disorder of glycosylation type 1y; SSR4-CDG
Identifiers:
MONDO: MONDO:0010490; MedGen: C4012395; Orphanet: 370927; OMIM: 300934

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441512Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital
no assertion criteria provided
Pathogenic
(Jun 5, 2018) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital, SCV001441512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided

Description

NGS CDG panel

Description

maternal inheritance CDG type 1 serum sialotransferrin profile

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2022