chr1:146018395:G>T Detail (hg38) (HJV)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:145,416,617-145,416,617 |
hg38 | chr1:146,018,395-146,018,395 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001316767.1:c.963C>A | NP_001303696.1:p.Cys321Ter |
NM_213653.3:c.963C>A | NP_998818.1:p.Cys321Ter | |
NM_145277.4:c.624C>A | NP_660320.3:p.Cys208Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_213653.4(HJV):c.963C>A (p.Cys321Ter) AND Hemochromatosis type 2A | ClinVar | Detail |
NM_213653.4(HJV):c.963C>A (p.Cys321Ter) AND Hemochromatosis type 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs121434374 dbSNP
- Genome
- hg38
- Position
- chr1:146,018,395-146,018,395
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser