View genomic variant #0000000077

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.145416614G>T
Published as -
GERP 5.440
Segregation -
DB-ID HFE2_000001
dbSNP ID rs74315323
Frequency -
Sources ;
Reference 19796184;12891378;14647275;14982873;15461631;15811010
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00031 View details
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.620G>T p.(Gly207Val) missense_variant - 3/3 probably_damaging(1) r.(?) deleterious(0)


ClinVar @ MSeqDR

0.0003
0.00017
17404
MedGen:C1865614,OMIM:602390|MedGen:C3469186,OMIM:235200
Hemochromatosis type 2A|Hemochromatosis type 1
HGVS variant names NC 000001.10:g.145416614G>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:608374.0001,UniProtKB (protein):Q6ZVN8#VAR 019629
Gene symbol:Gene id. HFE2:148738
SO:0001583|missense variant
1
dbSNP ID 74315323
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
rs743153231145416614145416614G/TOMIM phenotype variantsHEMOCHROMATOSIS, TYPE 2A
rs743153231145416614145416614G/TOMIM phenotype variantsHemochromatosis type 2A
rs743153231145416614145416614G/TOMIM phenotype variantsHereditary hemochromatosis
CM0400811145416614145416614HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CI0416481145416615145416614HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available