chr1:146018399:C>A Detail (hg38) (HJV)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:145,416,613-145,416,613 |
hg38 | chr1:146,018,399-146,018,399 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001316767.1:c.959G>T | NP_001303696.1:p.Gly320Val |
NM_213653.3:c.959G>T | NP_998818.1:p.Gly320Val | |
NM_145277.4:c.620G>T | NP_660320.3:p.Gly207Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-10-15 | criteria provided, multiple submitters, no conflicts | hemochromatosis type 2A |
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Detail |
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2009-11-01 | no assertion criteria provided | hemochromatosis type 1 |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-03-28 | criteria provided, single submitter | Juvenile hemochromatosis |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.320 | HEMOCHROMATOSIS, TYPE 2A | NA | CLINVAR | Detail | |
0.121 | Hereditary hemochromatosis | NA | CLINVAR | Detail | |
0.170 | hemochromatosis | Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou... | BeFree | 21495455 | Detail |
0.360 | hemochromatosis | Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 ou... | BeFree | 21495455 | Detail |
0.121 | Hereditary hemochromatosis | Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochrom... | BeFree | 20593054 | Detail |
0.245 | Juvenile hemochromatosis | Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemoc... | BeFree | 15194541 | Detail |
0.121 | Hereditary hemochromatosis | We evaluated the frequency of the most common mutation (G320V) of the HJV gene i... | BeFree | 15194541 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Hemochromatosis type 2A | ClinVar | Detail |
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Hemochromatosis type 1 | ClinVar | Detail |
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND not provided | ClinVar | Detail |
NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Juvenile hemochromatosis | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou... | DisGeNET | Detail |
Among 549 patients we found 10 to have the phenotype of hemochromatosis and 3 out of the 10 were fou... | DisGeNET | Detail |
Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A cas... | DisGeNET | Detail |
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greec... | DisGeNET | Detail |
We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek populati... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs74315323 dbSNP
- Genome
- hg38
- Position
- chr1:146,018,399-146,018,399
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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