chr18:57559148:C>A Detail (hg38) (FECH)

Information

Genome

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

HGVS

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

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
hg38
Position
chr18:57,559,148-57,559,148
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser