RGD:38488875 Rat Genome Database

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Variant: RGD:38488875 -  Homo sapiens

RGD ID: 38488875
RS ID: rs104894934
ClinVar ID: CV939513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,665,312
GRCh38 X 18,647,192
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001037343.2:c.2797+1102C>T
NM_003159.3:c.2797+1102C>T
LRG_702t1:c.325G>A
NM_000330.4:c.325G>A
More... 		09/24/2019 intron variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQGFWCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFWCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

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 References at PubMed
PMID:9326935   PMID:10234514   PMID:12417531   PMID:15937075   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001209952 CLINVAR
dbSNP (RS) rs104894934 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR