Genomic variant #0000000078

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.145416618C>A
Published as -
GERP 2.380
Segregation -
DB-ID HFE2_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

17410
MedGen:C1865614,OMIM:602390|MedGen:C3469186,OMIM:235200
Hemochromatosis type 2A|Hemochromatosis type 1
HGVS variant names NC 000001.10:g.145416618C>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608374.0007
Gene symbol:Gene id. HJV:148738
SO:0001587|nonsense
1
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