RGD:9589195 Rat Genome Database

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Variant: RGD:9589195 -  Homo sapiens

RGD ID: 9589195
RS ID: rs267608462
ClinVar ID: CV165851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,297,634
GRCh38 X 154,032,183
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001386139.1:c.-184+24C>A
AJ132917.1:c.377+24C>A
NC_000023.11:g.154032183G>T
NC_000023.10:g.153297634G>T
More... 		10/26/2021 intron variant likely benign|uncertain significance|no classifications from unflagged records|not provided childhood <1 / 1 000 000 Autism, dementia, ataxia, and loss of purposeful hand use; Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; none provided; PPM-X syndrome; Rett's disorder

Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:NM_001386139
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:NM_001386138
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:NM_001386137
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:XM_047442121
Location:INTRON

Gene Symbol:MECP2
Accession:NM_004992
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001316337
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001110792
Location:INTRON

Gene Symbol:MECP2
Accession:XM_024452383
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369394
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442118
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369392
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442115
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442120
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369391
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369393
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442119
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442117
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442116
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17084570   PMID:28492532   PMID:34837432  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144102 CLINVAR
  RCV000170268 CLINVAR
  RCV001080116 CLINVAR
  RCV001800459 CLINVAR
dbSNP (RS) rs267608462 CLINVAR
MedGen C0035372 CLINVAR
  C0796222 CLINVAR
  C1968556 CLINVAR
  C3661900 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  300055 CLINVAR
  300673 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR