RGD:10046751 Rat Genome Database

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Variant: RGD:10046751 -  Homo sapiens

RGD ID: 10046751
RS ID: rs786205893
ClinVar ID: CV190086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,296,943
GRCh38 X 154,031,492
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
NG_007107.2:g.110636A>G
NC_000023.11:g.154031492T>C
NC_000023.10:g.153296943T>C
NM_001110792.2:c.414-42A>G
More... 		intron variant likely benign neonatal/infancy 1-9 / 100 000 Autism, dementia, ataxia, and loss of purposeful hand use; MECP2-Related Disorders; Rett's disorder
Disease Annotations     Click to see Annotation Detail View
Rett syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:NM_001386138
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:NM_001386139
Location:5UTRS;INTRON

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

Gene Symbol:MECP2
Accession:XM_047442120
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369393
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442119
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442117
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369391
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001316337
Location:INTRON

Gene Symbol:MECP2
Accession:NM_004992
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369394
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442115
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442116
Location:INTRON

Gene Symbol:MECP2
Accession:XM_024452383
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369392
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442121
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001110792
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442118
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000172867 CLINVAR
dbSNP (RS) rs786205893 CLINVAR
MedGen C0035372 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR