View genomic variant #0000000077

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.145416614G>T
Published as -
GERP 5.440
Segregation -
DB-ID HFE2_000001
MSCV MSCV_0000077
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

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 0000000077 ?/? c.620G>T p.(Gly207Val) missense_variant - 3/3 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000002462; RCV000002461;
Chromosome 1:145416614..145416614
Allele frequencies from ESP 0.0003
Allele frequencies from ExAC 0.00017
ClinVar Allele ID 17404
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.145416614G>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608374.0001|UniProtKB (protein):Q6ZVN8#VAR 019629
Gene symbol:Gene id. HJV:148738
Molecular consequence SO:0001583|missense variant
Allele origin germline
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