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NM_000375.3(UROS):c.395-1dup AND Cutaneous porphyria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2001
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:
RCV000003966.4

Allele description [Variation Report for NM_000375.3(UROS):c.395-1dup]

NM_000375.3(UROS):c.395-1dup

Gene:
UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q26.2
Genomic location:
Preferred name:
NM_000375.3(UROS):c.395-1dup
HGVS:
  • NC_000010.11:g.125798146dup
  • NG_011557.2:g.30126dup
  • NM_000375.3:c.395-1dupMANE SELECT
  • NM_001324036.2:c.395-1dup
  • NM_001324037.2:c.395-1958dup
  • NM_001324038.2:c.395-1958dup
  • LRG_1081t1:c.395-1dup
  • LRG_1081:g.30126dup
  • NC_000010.10:g.127486715dup
  • NM_000375.2:c.397dup
Links:
OMIM: 606938.0019; dbSNP: rs796051859
NCBI 1000 Genomes Browser:
rs796051859
Molecular consequence:
  • NM_001324037.2:c.395-1958dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001324038.2:c.395-1958dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000375.3:c.395-1dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001324036.2:c.395-1dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Cutaneous porphyria (CEP)
Synonyms:
GUNTHER DISEASE; Porphyria, Erythropoietic; Congenital porphyria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009902; MedGen: C0162530; Orphanet: 79277; OMIM: 263700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024131OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2001) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.

Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ.

J Clin Invest. 2001 Mar;107(6):753-62.

PubMed [citation]
PMID:
11254675
PMCID:
PMC208941

Details of each submission

From OMIM, SCV000024131.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp insertion in the UROS gene (398insG) that was found in compound heterozygous state in a patient with congenital erythropoietic porphyria (CEP; 263700) by Solis et al. (2001), see 606938.0015.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023