chrX:154031025:C> Detail (hg38) (MECP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:153,296,476-153,296,476 |
| hg38 | chrX:154,031,025-154,031,025 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004992.3:c.803delG | NP_004983.1:p.Gly269AlafsTer20 |
| NM_001110792.1:c.839delG | NP_001104262.1:p.Gly281AlafsTer20 | |
| NM_001316337.1:c.*175delG |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 9 |
| 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
|
Regression |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
respiratory failure |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
liver dysfunction |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
metabolic acidosis |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
hearing loss |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
diarrhea |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
Seizures |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
arrhythmia |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
||||
|
Pathogenic
|
cerebral atrophy |
germline
|
MGS000070
(TMGS000142) |
Kenjiro Kosaki |
Keio University Juntendo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-07-26 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-03-09 | reviewed by expert panel | Rett syndrome |
de novo
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
2024-01-06 | criteria provided, multiple submitters, no conflicts | Severe neonatal-onset encephalopathy with microcephaly |
de novo
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
2013-06-12 | no assertion criteria provided | X-linked intellectual disability-psychosis-macroorchidism syndrome |
germline
|
Detail |
|
Pathogenic
|
2020-10-07 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2017-12-31 | criteria provided, single submitter | X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly |
germline
|
Detail |
|
Pathogenic
|
2017-12-31 | criteria provided, single submitter | X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly |
germline
|
Detail |
|
Pathogenic
|
2017-12-31 | criteria provided, single submitter | X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly |
germline
|
Detail |
|
Pathogenic
|
2017-12-31 | criteria provided, single submitter | X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly |
germline
|
Detail |
|
Pathogenic
|
2019-03-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2019-12-19 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-04-22 | criteria provided, single submitter | syndromic X-linked intellectual disability Lubs type |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Mental Retardation, X-Linked, Syndromic 13 | NA | CLINVAR | Detail | |
| 0.360 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | NA | CLINVAR | Detail | |
| 0.800 | Rett syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND not provided | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND Rett syndrome | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND Severe neonatal-onset encephalopathy with microcepha... | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND X-linked intellectual disability-psychosis-macroorch... | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND Inborn genetic diseases | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND not specified | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND See cases | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND multiple conditions | ClinVar | Detail |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) AND Syndromic X-linked intellectual disability Lubs type | ClinVar | Detail |
| NA | DisGeNET | 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
- rs61750241 dbSNP
- Genome
- hg38
- Position
- chrX:154,031,025-154,031,025
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser