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NM_000375.3(UROS):c.743C>A (p.Pro248Gln) AND Cutaneous porphyria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1996
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:
RCV000003967.3

Allele description [Variation Report for NM_000375.3(UROS):c.743C>A (p.Pro248Gln)]

NM_000375.3(UROS):c.743C>A (p.Pro248Gln)

Gene:
UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.2
Genomic location:
Preferred name:
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)
HGVS:
  • NC_000010.11:g.125788923G>T
  • NG_011557.2:g.39346C>A
  • NM_000375.3:c.743C>AMANE SELECT
  • NM_001324036.2:c.824C>A
  • NM_001324037.2:c.743C>A
  • NM_001324038.2:c.662C>A
  • NP_000366.1:p.Pro248Gln
  • NP_001310965.1:p.Pro275Gln
  • NP_001310966.1:p.Pro248Gln
  • NP_001310967.1:p.Pro221Gln
  • LRG_1081t1:c.743C>A
  • LRG_1081:g.39346C>A
  • LRG_1081p1:p.Pro248Gln
  • NC_000010.10:g.127477492G>T
  • NR_136675.2:n.818C>A
  • NR_136676.2:n.1245C>A
  • NR_136678.2:n.729C>A
  • P10746:p.Pro248Gln
Protein change:
P221Q; PRO248GLN
Links:
UniProtKB: P10746#VAR_066247; OMIM: 606938.0020; dbSNP: rs121908021
NCBI 1000 Genomes Browser:
rs121908021
Molecular consequence:
  • NM_000375.3:c.743C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324036.2:c.824C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324037.2:c.743C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324038.2:c.662C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136675.2:n.818C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136676.2:n.1245C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136678.2:n.729C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000024132OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1996) 		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

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C.

Eur J Hum Genet. 1996;4(5):274-82.

PubMed [citation]
PMID:
8946173

Details of each submission

From OMIM, SCV000024132.2

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

Description

Fontanellas et al. (1996) identified a C-to-A transversion at nucleotide 743 in exon 10 of the UROS gene, resulting in a pro248-to-gln (P248Q) substitution, in 3 patients from 2 Spanish families with severe congenital erythropoietic porphyria (CEP; 263700). All 3 patients also carried the cys73-to-arg mutation (C73R; 606938.0001).

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

Last Updated: Aug 5, 2023