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NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G] AND Protoporphyria, erythropoietic, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2000
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:
RCV000000591.5

Alleles description [Variation Report for NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]]

NM_000140.5(FECH):c.1224T>A (p.Asn408Lys)

Gene:
FECH:ferrochelatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_000140.5(FECH):c.1224T>A (p.Asn408Lys)
HGVS:
  • NC_000018.10:g.57550760A>T
  • NG_008175.1:g.40978T>A
  • NM_000140.5:c.1224T>AMANE SELECT
  • NM_001012515.4:c.1242T>A
  • NM_001371094.1:c.1125T>A
  • NM_001371095.1:c.1008T>A
  • NM_001374778.1:c.1164T>A
  • NP_000131.2:p.Asn408Lys
  • NP_001012533.1:p.Asn414Lys
  • NP_001358023.1:p.Asn375Lys
  • NP_001358024.1:p.Asn336Lys
  • NP_001361707.1:p.Asn388Lys
  • LRG_1080t1:c.1224T>A
  • LRG_1080t2:c.1242T>A
  • LRG_1080:g.40978T>A
  • LRG_1080p1:p.Asn408Lys
  • LRG_1080p2:p.Asn414Lys
  • NC_000018.9:g.55217992A>T
  • NM_000140.3:c.1224T>A
Protein change:
N336K; ASN408LYS
Links:
OMIM: 612386.0014; dbSNP: rs267606803
NCBI 1000 Genomes Browser:
rs267606803
Molecular consequence:
  • NM_000140.5:c.1224T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012515.4:c.1242T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371094.1:c.1125T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371095.1:c.1008T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374778.1:c.1164T>A - missense variant - [Sequence Ontology: SO:0001583]

NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)

Gene:
FECH:ferrochelatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)
Other names:
p.Cys411Gly
HGVS:
  • NC_000018.10:g.57550753A>C
  • NG_008175.1:g.40985T>G
  • NM_000140.4:c.1231T>G
  • NM_000140.5:c.1231T>GMANE SELECT
  • NM_001012515.4:c.1249T>G
  • NM_001371094.1:c.1132T>G
  • NM_001371095.1:c.1015T>G
  • NM_001374778.1:c.1171T>G
  • NP_000131.2:p.Cys411Gly
  • NP_001012533.1:p.Cys417Gly
  • NP_001358023.1:p.Cys378Gly
  • NP_001358024.1:p.Cys339Gly
  • NP_001361707.1:p.Cys391Gly
  • LRG_1080t1:c.1231T>G
  • LRG_1080t2:c.1249T>G
  • LRG_1080:g.40985T>G
  • LRG_1080p1:p.Cys411Gly
  • LRG_1080p2:p.Cys417Gly
  • NC_000018.9:g.55217985A>C
  • NM_000140.3:c.1231T>G
Protein change:
C339G; CYS411GLY
Links:
OMIM: 612386.0014; dbSNP: rs146899669
NCBI 1000 Genomes Browser:
rs146899669
Molecular consequence:
  • NM_000140.5:c.1231T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012515.4:c.1249T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371094.1:c.1132T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371095.1:c.1015T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374778.1:c.1171T>G - missense variant - [Sequence Ontology: SO:0001583]

NM_000140.5(FECH):c.1225C>T (p.Pro409Ser)

Gene:
FECH:ferrochelatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_000140.5(FECH):c.1225C>T (p.Pro409Ser)
HGVS:
  • NC_000018.10:g.57550759G>A
  • NG_008175.1:g.40979C>T
  • NM_000140.5:c.1225C>TMANE SELECT
  • NM_001012515.4:c.1243C>T
  • NM_001371094.1:c.1126C>T
  • NM_001371095.1:c.1009C>T
  • NM_001374778.1:c.1165C>T
  • NP_000131.2:p.Pro409Ser
  • NP_001012533.1:p.Pro415Ser
  • NP_001358023.1:p.Pro376Ser
  • NP_001358024.1:p.Pro337Ser
  • NP_001361707.1:p.Pro389Ser
  • LRG_1080t1:c.1225C>T
  • LRG_1080t2:c.1243C>T
  • LRG_1080:g.40979C>T
  • LRG_1080p1:p.Pro409Ser
  • LRG_1080p2:p.Pro415Ser
  • NC_000018.9:g.55217991G>A
  • NM_000140.3:c.1225C>T
Protein change:
P337S; PRO409SER
Links:
OMIM: 612386.0014; dbSNP: rs267606804
NCBI 1000 Genomes Browser:
rs267606804
Molecular consequence:
  • NM_000140.5:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012515.4:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371094.1:c.1126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371095.1:c.1009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374778.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Protoporphyria, erythropoietic, 1 (EPP1)
Synonyms:
Heme synthetase deficiency; Ferrochelatase deficiency; Erythropoietic Protoporphyria, Autosomal Recessive
Identifiers:
MONDO: MONDO:0008319; MedGen: C4692546; Orphanet: 79278; OMIM: 177000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020740OMIM
no assertion criteria provided
Pathogenic
(Aug 15, 2000) 		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

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC.

Blood. 2000 Aug 15;96(4):1545-9.

PubMed [citation]
PMID:
10942404

Details of each submission

From OMIM, SCV000020740.3

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

Description

In a patient with erythropoietic protoporphyria (EPP1; 177000), Schneider-Yin et al. (2000) found heterozygosity for a triple mutation in the FECH gene: 1224T-A, 1225C-T, and 1231T-G, leading to asn408-to-lys/pro409-to-ser/cys411-to-gly amino acid changes. All 3 mutations were absent from the FECH gene of the patient's mother, suggesting that all 3 were aligned on the FECH allele derived from the father.

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

Last Updated: Sep 29, 2024