RGD:126726952 Rat Genome Database

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Pathways
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Variant: RGD:126726952 -  Homo sapiens

RGD ID: 126726952
RS ID: rs1158418673
ClinVar ID: CV1018960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,668,541
GRCh38 X 18,650,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000330.4:c.185-3090_185-3089insT
NM_001037343.2:c.2809_2810insA
LRG_702:g.32027_32028insT
NM_003159.2:c.2809_2810insA
More... 		12/17/2022 intron variant pathogenic|uncertain significance Angelman syndrome-like; Early infantile epileptic encephalopathy 2; INFANTILE SPASM SYNDROME, X-LINKED 2; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:XM_047442337
Location:5UTRS;EXON

Gene Symbol:CDKL5
Accession:NM_001037343
Location:EXON
Amino Acid Prediction: C to L (nonsynonymous)
Amino Acid Position: 937
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFR
RRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNL
SEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYS
NPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVES
STLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNN
NIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSP
SYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRT
TTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARAN
SLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPS
PRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPD
LLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLS
QASGGSSNIRQEPAPKGRPALQLPDGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFLCGDPKKPHTPCVPNRALHRPISS
PAPYPVLQVRGTSMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK*

Gene Symbol:CDKL5
Accession:NM_003159
Location:EXON
Amino Acid Prediction: C to L (nonsynonymous)
Amino Acid Position: 937
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFR
RRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNL
SEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYS
NPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVES
STLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNN
NIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSP
SYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRT
TTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARAN
SLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPS
PRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPD
LLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLS
QASGGSSNIRQEPAPKGRPALQLPDGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFLCGDPKKPHTPCVPNRALHRPISS
PAPYPVLQVRGTSMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK*

Gene Symbol:RS1
Accession:NM_000330
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:30624022   PMID:36703223  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332234 CLINVAR
  RCV002508802 CLINVAR
  RCV003770843 CLINVAR
dbSNP (RS) rs1158418673 CLINVAR
MedGen C3661900 CLINVAR
  C4750718 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300672 CLINVAR
  300839 CLINVAR