U.S. flag

An official website of the United States government

NM_000375.3(UROS):c.311C>T (p.Ala104Val) AND Cutaneous porphyria

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000055809.4

Allele description [Variation Report for NM_000375.3(UROS):c.311C>T (p.Ala104Val)]

NM_000375.3(UROS):c.311C>T (p.Ala104Val)

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.311C>T (p.Ala104Val)
HGVS:
  • NC_000010.11:g.125812222G>A
  • NG_011557.2:g.16047C>T
  • NM_000375.3:c.311C>TMANE SELECT
  • NM_001324036.2:c.311C>T
  • NM_001324037.2:c.311C>T
  • NM_001324038.2:c.311C>T
  • NM_001324039.2:c.311C>T
  • NP_000366.1:p.Ala104Val
  • NP_001310965.1:p.Ala104Val
  • NP_001310966.1:p.Ala104Val
  • NP_001310967.1:p.Ala104Val
  • NP_001310968.1:p.Ala104Val
  • LRG_1081t1:c.311C>T
  • LRG_1081:g.16047C>T
  • LRG_1081p1:p.Ala104Val
  • NC_000010.10:g.127500791G>A
  • NM_000375.2:c.311C>T
  • NR_136675.2:n.386C>T
  • NR_136676.2:n.567C>T
  • NR_136677.2:n.567C>T
  • NR_136678.2:n.297C>T
  • P10746:p.Ala104Val
Protein change:
A104V
Links:
UniProtKB: P10746#VAR_003682; dbSNP: rs397515528
NCBI 1000 Genomes Browser:
rs397515528
Molecular consequence:
  • NM_000375.3:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324036.2:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324037.2:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324038.2:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324039.2:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136675.2:n.386C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136676.2:n.567C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136677.2:n.567C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136678.2:n.297C>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086782GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000086782.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023