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NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) AND Non-immune hydrops fetalis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 19, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000170580.1

Allele description

NM_000181.4(GUSB):c.398G>C (p.Trp133Ser)

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.398G>C (p.Trp133Ser)
HGVS:
  • NC_000007.14:g.65979910C>G
  • NG_016197.1:g.7405G>C
  • NM_000181.4:c.398G>CMANE SELECT
  • NM_001284290.2:c.398G>C
  • NM_001293104.2:c.11+314G>C
  • NM_001293105.2:c.67+314G>C
  • NP_000172.2:p.Trp133Ser
  • NP_001271219.1:p.Trp133Ser
  • NC_000007.13:g.65444897C>G
  • NM_000181.3:c.398G>C
  • NR_120531.2:n.428G>C
Protein change:
W133S
Links:
dbSNP: rs786205671
NCBI 1000 Genomes Browser:
rs786205671
Molecular consequence:
  • NM_001293104.2:c.11+314G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293105.2:c.67+314G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000181.4:c.398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284290.2:c.398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.428G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Non-immune hydrops fetalis (NIHF)
Synonyms:
Idiopathic hydrops fetalis; Familial non-immune hydrops fetalis; Fetal edema
Identifiers:
MONDO: MONDO:0009369; MedGen: C0455988; OMIM: 236750; Human Phenotype Ontology: HP:0001790

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222676Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Mar 19, 2014) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS.

Genome Biol. 2015 Jun 3;16:116. doi: 10.1186/s13059-015-0681-6.

PubMed [citation]
PMID:
26036949
PMCID:
PMC4491988

Details of each submission

From Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre, SCV000222676.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022