RGD:9480407 Rat Genome Database

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Variant: RGD:9480407 -  Homo sapiens

RGD ID: 9480407
RS ID: rs267608356
ClinVar ID: CV152988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,293,262
GRCh38 X 154,027,811
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316337.2:c.*2556T>A
NM_004992.3:c.*2556T>A
AJ132917.1:c.*2556T>A
NC_000023.11:g.154027811A>T
More... 		08/14/2023 3 prime utr variant benign|uncertain significance|not provided Austism susceptibility, X-linked; Autism susceptibility, X-linked 3; Autism, dementia, ataxia, and loss of purposeful hand use; Rett's disorder
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:NM_001386139
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001316337
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369392
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369394
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_004992
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_024452383
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369393
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369391
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442115
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442122
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442121
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001386138
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442119
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442116
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442120
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001110792
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442118
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:XM_047442117
Location:3UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001386137
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:17427193   PMID:34837432  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000132780 CLINVAR
  RCV003380426 CLINVAR
dbSNP (RS) rs267608356 CLINVAR
MedGen C0035372 CLINVAR
  C1845336 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  300496 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR