U.S. flag

An official website of the United States government

NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) AND Acute intermittent porphyria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1993
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:
RCV000001534.7

Allele description [Variation Report for NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)]

NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)

Gene:
HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)
HGVS:
  • NC_000011.10:g.119092491T>C
  • NG_008093.1:g.12615T>C
  • NM_000190.4:c.739T>CMANE SELECT
  • NM_001024382.2:c.688T>C
  • NM_001258208.2:c.652-267T>C
  • NM_001258209.2:c.601-267T>C
  • NP_000181.2:p.Cys247Arg
  • NP_001019553.1:p.Cys230Arg
  • LRG_1076t1:c.739T>C
  • LRG_1076t2:c.688T>C
  • LRG_1076:g.12615T>C
  • LRG_1076p1:p.Cys247Arg
  • LRG_1076p2:p.Cys230Arg
  • NC_000011.9:g.118963201T>C
  • NM_000190.3:c.739T>C
  • P08397:p.Cys247Arg
Protein change:
C230R; CYS247ARG
Links:
UniProtKB: P08397#VAR_003664; OMIM: 609806.0029; dbSNP: rs118204111
NCBI 1000 Genomes Browser:
rs118204111
Molecular consequence:
  • NM_001258208.2:c.652-267T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258209.2:c.601-267T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000190.4:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001024382.2:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute intermittent porphyria (AIP)
Synonyms:
Porphobilinogen deaminase deficiency; Uroporphyrinogen synthase deficiency; UPS deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008294; MedGen: C0162565; Orphanet: 79276; OMIM: 176000

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
SCV000021689OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1993) 		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

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Mgone CS, Lanyon WG, Moore MR, Louie GV, Connor JM.

Hum Genet. 1993 Dec;92(6):619-22.

PubMed [citation]
PMID:
8262523

Details of each submission

From OMIM, SCV000021689.5

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

Description

In a patient with acute intermittent porphyria (AIP; 176000), Mgone et al. (1993) identified a c.739T-C transition in exon 12 of the HMBS gene, resulting in a cys247-to-arg (C247R) substitution.

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

Last Updated: Sep 1, 2024