RGD:15142767 Rat Genome Database

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Variant: RGD:15142767 -  Homo sapiens

RGD ID: 15142767
RS ID: rs1557149879
ClinVar ID: CV776964
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,357,633
GRCh38 X 154,092,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369393.2:c.-366+5429C>T
NM_001369392.2:c.-366+9C>T
NM_001316337.2:c.-422+9C>T
NM_001369391.2:c.-717+9C>T
More... 		12/31/2019 intron variant likely benign Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:XM_024452383
Location:5UTRS;INTRON

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

Gene Symbol:MECP2
Accession:XM_047442120
Location:5UTRS;INTRON

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

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

Gene Symbol:MECP2
Accession:NM_001369393
Location:5UTRS;INTRON

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

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

Gene Symbol:MECP2
Accession:XM_047442118
Location:5UTRS;INTRON

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

Gene Symbol:MECP2
Accession:XM_047442119
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:NM_001369394
Location:5UTRS;INTRON

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442116
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442115
Location:INTRON

Gene Symbol:MECP2
Accession:NM_001110792
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442117
Location:INTRON

Gene Symbol:MECP2
Accession:NM_004992
Location:INTRON

Gene Symbol:MECP2
Accession:XM_047442121
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000944132 CLINVAR
dbSNP (RS) rs1557149879 CLINVAR
MedGen C1968556 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  300673 CLINVAR