RGD:39456992 Rat Genome Database

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Variant: RGD:39456992 -  Homo sapiens

RGD ID: 39456992
RS ID: rs1937418084
ClinVar ID: CV966321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK16  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,082,535
GRCh38 X 47,223,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.47223136C>T
NC_000023.10:g.47082535C>T
NM_001170460.1:c.41C>T
NP_001163931.1:p.Pro14Leu
More... 		02/04/2020 intron variant uncertain significance Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDK16
Accession:XM_011543924
Location:5UTRS;INTRON

Gene Symbol:CDK16
Accession:XM_011543925
Location:5UTRS;INTRON

Gene Symbol:CDK16
Accession:XM_011543926
Location:5UTRS;INTRON

Gene Symbol:CDK16
Accession:XM_047442154
Location:5UTRS;INTRON

Gene Symbol:CDK16
Accession:NM_006201
Location:5UTRS;INTRON

Gene Symbol:CDK16
Accession:NM_001170460
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLYGRARDHVTHLSILGTRPGRPMAGPITAAVPEKICNGAFCSCSGAFPLDPNNPSLGPLPSISHLNLRTQIAMDRMKK
IKRQLSMTLRGGRGIDKTNGAPEQIGLDESGGGGGSDPGEAPTRAAPGELRSARGPLSSAPEIVHEDLKMGSDGESDQAS
ATSSDEVQSPVRVRMRNHPPRKISTEDINKRLSLPADIRLPEGYLEKLTLNSPIFDKPLSRRLRRVSLSEIGFGKLETYI
KLDKLGEGTYATVYKGKSKLTDNLVALKEIRLEHEEGAPCTAIREVSLLKDLKHANIVTLHDIIHTEKSLTLVFEYLDKD
LKQYLDDCGNIINMHNVKLFLFQLLRGLAYCHRQKVLHRDLKPQNLLINERGELKLADFGLARAKSIPTKTYSNEVVTLW
YRPPDILLGSTDYSTQIDMWGVGCIFYEMATGRPLFPGSTVEEQLHFIFRILGTPTEETWPGILSNEEFKTYNYPKYRAE
ALLSHAPRLDSDGADLLTKLLQFEGRNRISAEDAMKHPFFLSLGERIHKLPDTTSIFALKEIQLQKEASLRSSSMPDSGR
PAFRVVDTEF*

Gene Symbol:CDK16
Accession:XM_011543920
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLYGRARDHVTHLSILGTRPGRPMAGPITAAVPEKICNGAFCSCSGAFPLDPNNPSLGPLPSISHLNLRTQIAMDRMKK
IKRQLSMTLRGGRGIDKTNGAPEQIGLDESGGGGGSDPGEAPTRAAPGELRSARGPLSSAPEIVHEDLKMGSDGESDQAS
ATSSDEVQSPVRVRMRNHPPRKISTEDINKRLSLPADIRLPEGYLEKLTLNSPIFDKPLSRRLRRVSLSEIGFGKLETYI
KLDKLGEGTYATVYKGKSKLTDNLVALKEIRLEHEEGAPCTAIREVSLLKDLKHANIVTLHDIIHTEKSLTLVFEYLDKD
LKQYLDDCGNIINMHNVKLFLFQLLRGLAYCHRQKVLHRDLKPQNLLINERGELKLADFGLARAKSIPTKTYSNEVVTLW
YRPPDILLGSTDYSTQIDMWGVGCIFYEMATGRPLFPGSTVEEQLHFIFRILGTPTEETWPGILSNEEFKTYNYPKYRAE
ALLSHAPRLDSDGADLLTKLLQFEGRNRISAEDAMKHPFFLSLGERIHKLPDTTSIFALKEIQLQKEASLRSSSMPDSVA
GGQHGRASLPH*

Gene Symbol:CDK16
Accession:XM_047442153
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLYGRARDHVTHLSILGTRPGRPMAGPITAAVPEKICNGAFCSCSGAFPLDPNNPSLGPLPSISHLNLRTQIAMDRMKK
IKRQLSMTLRGGRGIDKTNGAPEQIGLDESGGGGGSDPGEAPTRAAPGELRSARGPLSSAPEIVHEDLKMGSDGESDQAS
ATSSDEVQSPVRVRMRNHPPRKISTEDINKRLSLPADIRLPEGYLEKLTLNSPIFDKPLSRRLRRVSLSEIGFGKLETYI
KLDKLGEGTYATVYKGKSKLTDNLVALKEIRLEHEEGAPCTAIREVSLLKDLKHANIVTLHDIIHTEKSLTLVFEYLDKD
LKQYLDDCGNIINMHNVKAWPEPSQSQQRHTPMRW*

Gene Symbol:CDK16
Accession:XM_011543922
Location:INTRON

Gene Symbol:CDK16
Accession:XM_047442152
Location:INTRON

Gene Symbol:CDK16
Accession:XM_011543923
Location:INTRON

Gene Symbol:CDK16
Accession:NM_033018
Location:INTRON

Gene Symbol:CDK16
Accession:XM_017029569
Location:INTRON

Gene Symbol:CDK16
Accession:XM_011543921
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001256146 CLINVAR
dbSNP (RS) rs1937418084 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene CDK16 CLINVAR
OMIM 311550 CLINVAR
SNOMED CT 228156007 CLINVAR