chr18:55226380:C>T Detail (hg19) (FECH)

Information

Genome

Assembly Position
hg19 chr18:55,226,380-55,226,380
hg38 chr18:57,559,148-57,559,148 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000140.3:c.801G>A NP_000131.2:p.Met267Ile
NM_001012515.2:c.585G>A NP_001012533.1:p.Met195Ile
Ensemble ENST00000262093.11:c.801G>A ENST00000262093.11:p.Met267Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 612386 OMIM
HGNC 3647 HGNC
Ensembl ENSG00000066926 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Protoporphyria, erythropoietic, 1 germline Detail
Uncertain significance 2022-10-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.609 erythropoietic protoporphyria NA CLINVAR Detail
0.609 erythropoietic protoporphyria Human erythropoietic protoporphyria: two point mutations in the ferrochelatase g... UNIPROT 1755842 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000140.5(FECH):c.801G>A (p.Met267Ile) AND Protoporphyria, erythropoietic, 1 ClinVar Detail
NM_000140.5(FECH):c.801G>A (p.Met267Ile) AND not provided ClinVar Detail
NA DisGeNET Detail
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs118204037 dbSNP
Genome
hg19
Position
chr18:55,226,380-55,226,380
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121328
Allele Counts in All Race (ExAC)
132
Heterozygous Counts in All Race (ExAC)
130
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0010879599103257285
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