RGD:9480640 Rat Genome Database

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Variant: RGD:9480640 -  Homo sapiens

RGD ID: 9480640
RS ID: rs61754437
ClinVar ID: CV153230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,297,841
GRCh38 X 154,032,390
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_004992.3:c.194C>G
AJ132917.1:c.194C>G
NC_000023.11:g.154032390G>C
NC_000023.10:g.153297841G>C
More... 		02/08/2013 5 prime utr variant|nonsense pathogenic|not provided neonatal/infancy 1-9 / 100 000 Autism, dementia, ataxia, and loss of purposeful hand use; none provided; Rett's disorder
Disease Annotations     Click to see Annotation Detail View
Rett syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:XM_047442117
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:MECP2
Accession:XM_024452383
Location:5UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001369392
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:XM_047442121
Location:5UTRS;EXON

Gene Symbol:MECP2
Accession:NM_001110792
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAAPSGGGGGGEEERLEEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAET*EGS
GSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDT
SLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQT
SPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKT
RETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPP
PPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPR
PNREEPVDSRTPVTERVS*

Gene Symbol:MECP2
Accession:XM_047442115
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAET*EGSGSAPAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:NM_004992
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAET*EGSGSAPAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:XM_047442116
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAET*EGSGSAPAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000133029 CLINVAR
  RCV000193745 CLINVAR
dbSNP (RS) rs61754437 CLINVAR
MedGen C0035372 CLINVAR
  CN517202 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR