RGD:11547017 Rat Genome Database

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Variant: RGD:11547017 -  Homo sapiens

RGD ID: 11547017
RS ID: rs186334493
ClinVar ID: CV257793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,660,223
GRCh38 X 18,642,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_702:g.40346C>T
NG_008659.3:g.40346C>T
NC_000023.11:g.18642103G>A
NG_008475.1:g.221499G>A
More... 		02/26/2019 intron variant|synonymous variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247213 CLINVAR
  RCV000941303 CLINVAR
dbSNP (RS) rs186334493 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR