RGD:38457808 Rat Genome Database

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Variant: RGD:38457808 -  Homo sapiens

RGD ID: 38457808
RS ID: rs2066907057
ClinVar ID: CV962868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068854  MECP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,363,121
GRCh38 X 154,097,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004992.4:c.-159T>C
NM_001369393.2:c.-426T>C
NM_001369392.2:c.-550T>C
NG_007107.2:g.44458T>C
More... 		01/15/2024 5 prime utr variant likely pathogenic|conflicting interpretations of pathogenicity Autism, dementia, ataxia, and loss of purposeful hand use; Rett's disorder
Disease Annotations     Click to see Annotation Detail View
Rett syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:NM_001369393
Location:5UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369392
Location:5UTRS;EXON

Gene Symbol:MECP2
Accession:NM_004992
Location:5UTRS;EXON

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

Gene Symbol:MECP2
Accession:NM_001316337
Location:5UTRS;EXON

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

Gene Symbol:MECP2
Accession:NM_001369391
Location:5UTRS;EXON

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

Gene Symbol:MECP2
Accession:NM_001110792
Location:EXON

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442120
Location:INTRON

Gene Symbol:MECP2
Accession:XM_024452383
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001369394
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442121
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442117
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442116
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442118
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442115
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442119
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:34837432  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001250739 CLINVAR
dbSNP (RS) rs2066907057 CLINVAR
MedGen C0035372 CLINVAR
NCBI Gene LOC130068854 CLINVAR
  MECP2 CLINVAR
OMIM 300005 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR