chr18:55238820:A>G Detail (hg19) (FECH)

Information

Genome

Assembly Position
hg19 chr18:55,238,820-55,238,820
hg38 chr18:57,571,588-57,571,588 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000140.3:c.315-48T>C
NM_001012515.2:c.99-48T>C
Ensemble ENST00000262093.11:c.315-48T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.441
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.327

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 tgv60152344 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 2024-03-25 criteria provided, conflicting interpretations Protoporphyria, erythropoietic, 1 germline unknown Detail
no classifications from unflagged records 2024-02-15 no classifications from unflagged records unknown Detail
Pathogenic 2023-10-04 criteria provided, single submitter Autosomal erythropoietic protoporphyria germline Detail
Pathogenic Pathogenic low penetrance 2024-01-31 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_000140.5(FECH):c.315-48T>C AND Protoporphyria, erythropoietic, 1 ClinVar Detail
NM_000140.5(FECH):c.315-48T>C AND multiple conditions ClinVar Detail
NM_000140.5(FECH):c.315-48T>C AND Autosomal erythropoietic protoporphyria ClinVar Detail
NM_000140.5(FECH):c.315-48T>C AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2272783 dbSNP
Genome
hg19
Position
chr18:55,238,820-55,238,820
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2272783
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4412
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7394
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
2817
East Asian Heterozygous Counts (ExAC)
1885
East Asian Homozygous Counts (ExAC)
466
East Asian Allele Frequency (ExAC)
0.3267981438515081
Chromosome Counts in All Race (ExAC)
120918
Allele Counts in All Race (ExAC)
12974
Heterozygous Counts in All Race (ExAC)
9718
Homozygous Counts in All Race (ExAC)
1628
Allele Frequency in All Race (ExAC)
0.10729585338824658
Genome browser