View genomic variant #0000000078

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.145416618C>A
Published as -
GERP 2.380
Segregation -
DB-ID HFE2_000002
MSCV MSCV_0000078
dbSNP ID rs121434374
Frequency -
Sources ;
Reference 15461631;15138164
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HFE2 00003317 NM_145277.4 0000000078 ?/? c.624C>A p.(Cys208*) stop_gained - 3/3 - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000002469; RCV000002468;
Chromosome 1:145416618..145416618
ClinVar Allele ID 17410
Disease database name and identifier MedGen:C1865614, OMIM:602390|MedGen:C3469186, OMIM:235200
ClinVar preferred disease name Hemochromatosis type 2A|Hemochromatosis type 1
HGVS variant names NC 000001.10:g.145416618C>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608374.0007
Gene symbol:Gene id. HJV:148738
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 121434374
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1214343741145416618145416618C/AOMIM phenotype variantsHEMOCHROMATOSIS, TYPE 2A
rs1214343741145416618145416618C/AOMIM phenotype variantsHemochromatosis type 2A
rs1214343741145416618145416618C/AOMIM phenotype variantsHereditary hemochromatosis
CM0429971145416618145416618HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available