chr7:100629313:C>T Detail (hg38) (TFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:100,226,936-100,226,936 View the variant detail on this assembly version. |
hg38 | chr7:100,629,313-100,629,313 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003227.3:c.1330G>A | NP_003218.2:p.Ala444Thr |
Ensemble | ENST00000223051.8:c.1330G>A | ENST00000223051.8:p.Ala444Thr |
ENST00000431692.5:c.*5G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-03-28 | criteria provided, conflicting interpretations | hemochromatosis type 3 |
![]() ![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.562 | HEMOCHROMATOSIS, TYPE 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) AND Hemochromatosis type 3 | ClinVar | 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
- rs80338884 dbSNP
- Genome
- hg38
- Position
- chr7:100,629,313-100,629,313
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser