chr16:89809276:C>T Detail (hg19) (FANCA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:89,809,276-89,809,276 |
| hg38 | chr16:89,742,868-89,742,868 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000135.2:c.3697G>A | NP_000126.2:p.Ala1233Thr |
| NM_001286167.1:c.3697G>A | NP_001273096.1:p.Ala1233Thr | |
| Ensemble | ENST00000389301.8:c.3697G>A | ENST00000389301.8:p.Ala1233Thr |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-04-01 | criteria provided, single submitter | Fanconi anemia |
germline
|
Detail |
|
Uncertain significance
|
2022-05-13 | criteria provided, multiple submitters, no conflicts | Fanconi anemia complementation group A |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) AND Fanconi anemia | ClinVar | Detail |
| NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) AND Fanconi anemia complementation group A | ClinVar | 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
- rs751899346 dbSNP
- Genome
- hg19
- Position
- chr16:89,809,276-89,809,276
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121374
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.238996819747227E-6
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