chr18:57550753:A>C Detail (hg38) (FECH)

Information

Genome

Assembly Position
hg19 chr18:55,217,985-55,217,985 View the variant detail on this assembly version.
hg38 chr18:57,550,753-57,550,753

HGVS

Type Transcript Protein
RefSeq NM_000140.3:c.1231T>G NP_000131.2:p.Cys411Gly
NM_001012515.2:c.1015T>G NP_001012533.1:p.Cys339Gly
Ensemble ENST00000262093.11:c.1231T>G ENST00000262093.11:p.Cys411Gly
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 Pathogenic
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
Pathogenic 2000-08-15 no assertion criteria provided Protoporphyria, erythropoietic, 1 germline Detail
Pathogenic 2023-11-06 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
Annotation

Annotations

DescrptionSourceLinks
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G] AND Protoporphyria, erythropoietic, 1 ClinVar Detail
NM_000140.5(FECH):c.1231T>G (p.Cys411Gly) AND not provided ClinVar Detail
NA 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
rs267606804 dbSNP
Genome
hg38
Position
chr18:57,550,753-57,550,753
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8614
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)
121100
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6515276630883568E-5
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