RGD:8645486 Rat Genome Database

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Variant: RGD:8645486 -  Homo sapiens

RGD ID: 8645486
RS ID: rs281865361
ClinVar ID: CV104895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 18,660,174
GRCh38 X 18,642,054
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008659.3:g.40395C>G
NC_000023.11:g.18642054G>C
NC_000023.10:g.18660174G>C
NP_000321.1:p.Arg209Gly
More... 		intron variant|missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVGIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVGIAIRMELLECVSKCA*

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000085347 CLINVAR
dbSNP (RS) rs281865361 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR