RGD:26912171 Rat Genome Database

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Variant: RGD:26912171 -  Homo sapiens

RGD ID: 26912171
RS ID: rs2583440
ClinVar ID: CV838264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1C  LOC127820205  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,906,109
GRCh38 11 2,884,879
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362475.2:c.255+323C>T
NM_001122630.2:c.578C>T
NM_001122631.2:c.578C>T
NM_000076.2:c.611C>T
More... 		05/08/2023 intron variant uncertain significance EMG Syndrome; Exomphalos macroglossia gigantism syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN1C
Accession:NM_000076
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWT
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPALAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001362474
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWT
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPALAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122631
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPALAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122630
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPALAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001362475
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001053264 CLINVAR
dbSNP (RS) rs2583440 CLINVAR
MedGen C0004903 CLINVAR
NCBI Gene CDKN1C CLINVAR
OMIM 130650 CLINVAR
  600856 CLINVAR
SNOMED CT 81780002 CLINVAR