chr18:57551317:T> Detail (hg38) (FECH)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:55,218,549-55,218,549
hg38	chr18:57,551,317-57,551,317

HGVS

FECH

Type	Transcript	Protein
RefSeq	NM_000140.3:c.1135delA	NP_000131.2:p.Lys379ArgfsTer21
	NM_001012515.2:c.919delA	NP_001012533.1:p.Lys307ArgfsTer21
Ensemble	ENST00000262093.11:c.1135delA	ENST00000262093.11:p.Lys379ArgfsTer21
	ENST00000382873.8:c.919delA	ENST00000382873.8:p.Lys307ArgfsTer21
	ENST00000652755.1:c.1153delA	ENST00000652755.1:p.Lys385ArgfsTer21

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

FECH

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	1998-07-01	no assertion criteria provided	Protoporphyria, erythropoietic, 1	germline	Detail
Pathogenic	2023-06-04	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.609	erythropoietic protoporphyria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000140.5(FECH):c.1136del (p.Lys379fs) AND Protoporphyria, erythropoietic, 1	ClinVar	Detail
NM_000140.5(FECH):c.1136del (p.Lys379fs) 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: rs764466739 dbSNP
Genome: hg38
Position: chr18:57,551,317-57,551,317
Variant Type: snv
Reference Allele: T
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8526
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): 118356
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.449085808915476E-6

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