RGD:9480643 Rat Genome Database

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Variant: RGD:9480643 -  Homo sapiens

RGD ID: 9480643
RS ID: rs61754440
ClinVar ID: CV153233
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MECP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,297,820
GRCh38 X 154,032,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
AJ132917.1:c.215C>T
NC_000023.11:g.154032369G>A
NC_000023.10:g.153297820G>A
NP_004983.1:p.Pro72Leu
More... 		10/26/2021 5 prime utr variant|missense variant likely benign|uncertain significance|not provided AllHighlyPenetrant; Autism, dementia, ataxia, and loss of purposeful hand use; Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations; Rett's disorder
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MECP2
Accession:NM_001386139
Location:5UTRS;EXON

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

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

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

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

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

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

Gene Symbol:MECP2
Accession:XM_047442117
Location:5UTRS;EXON

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

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

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

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

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

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

Gene Symbol:MECP2
Accession:XM_047442116
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSALAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:NM_001110792
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAAPSGGGGGGEEERLEEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGS
GSALAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDT
SLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQT
SPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKT
RETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPP
PPPEPESSEDPTSPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPR
PNREEPVDSRTPVTERVS*

Gene Symbol:MECP2
Accession:NM_004992
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSALAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:XM_047442115
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGSALAVPEASAS
PKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
GRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVV
KPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPT
SPPEPQDLSSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS*

Gene Symbol:MECP2
Accession:XM_047442122
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000133032 CLINVAR
  RCV001034292 CLINVAR
  RCV001800450 CLINVAR
dbSNP (RS) rs61754440 CLINVAR
MedGen C0035372 CLINVAR
  C1968556 CLINVAR
  CN169374 CLINVAR
NCBI Gene MECP2 CLINVAR
OMIM 300005 CLINVAR
  300673 CLINVAR
  312750 CLINVAR
SNOMED CT 68618008 CLINVAR