NM_001012515.3(FECH):c.68-23C>T AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Jan 25, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415389.1

Allele description [Variation Report for NM_001012515.3(FECH):c.68-23C>T]

NM_001012515.3(FECH):c.68-23C>T

Gene:
FECH:ferrochelatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_001012515.3(FECH):c.68-23C>T
HGVS:
  • NC_000018.10:g.57580222G>A
  • NG_008175.1:g.11516C>T
  • NM_000140.4:c.68-23C>T
  • NM_001012515.3:c.68-23C>T
  • NC_000018.9:g.55247454G>A
  • NM_000140.3:c.68-23C>T
  • NM_001012515.2:c.68-23C>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 1729699 Fig. 5 to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS1, C-T, -23
Links:
OMIM: 612386.0003; dbSNP: rs2269219
NCBI 1000 Genomes Browser:
rs2269219
Molecular consequence:
  • NM_000140.4:c.68-23C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Jaundice
Synonyms:
Icterus; Yellow skin; Yellowing of the skin
Identifiers:
MedGen: C0022346; Human Phenotype Ontology: HP:0000952
Name:
Erythema
Identifiers:
MedGen: C0041834; Human Phenotype Ontology: HP:0010783

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492646Centre for Mendelian Genomics,University Medical Centre Ljubljanano assertion criteria providedLikely benign
(Jan 25, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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