chr11:31801560:C>T Detail (hg38) (PAX6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:31,823,108-31,823,108 View the variant detail on this assembly version. |
| hg38 | chr11:31,801,560-31,801,560 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127612.1:c.357+1G>A | |
| NM_001604.5:c.399+1G>A | ||
| NM_001310161.1:c.-52+1G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
aniridia |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-01-05 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-05-15 | criteria provided, single submitter | aniridia 1,Irido-corneo-trabecular dysgenesis |
germline
|
Detail |
|
Pathogenic
|
2023-05-15 | criteria provided, single submitter | aniridia 1,Irido-corneo-trabecular dysgenesis |
germline
|
Detail |
|
Pathogenic
|
2021-08-10 | criteria provided, multiple submitters, no conflicts | aniridia 1 |
de novo
inherited
unknown
|
Detail |
|
Pathogenic
|
2022-11-16 | criteria provided, single submitter | PAX6-related disorder |
germline
|
Detail |
CIViC
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001368894.2(PAX6):c.399+1G>A AND not provided | ClinVar | Detail |
| NM_001368894.2(PAX6):c.399+1G>A AND multiple conditions | ClinVar | Detail |
| NM_001368894.2(PAX6):c.399+1G>A AND multiple conditions | ClinVar | Detail |
| NM_001368894.2(PAX6):c.399+1G>A AND Aniridia 1 | ClinVar | Detail |
| NM_001368894.2(PAX6):c.399+1G>A AND PAX6-related disorder | 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
- rs398123295 dbSNP
- Genome
- hg38
- Position
- chr11:31,801,560-31,801,560
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser