RGD:14702147 Rat Genome Database

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Variant: RGD:14702147 -  Homo sapiens

RGD ID: 14702147
RS ID: rs1475576590
ClinVar ID: CV639945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1C  LOC127820205  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,906,481
GRCh38 11 2,885,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.2885251G>A
NC_000011.9:g.2906481G>A
LRG_533p1:p.Thr80Ile
NM_000076.2:c.239C>T
More... 		08/04/2018 missense 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_001362475
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWIEVDSDSVPAFY
RETVQISSPSARDQRLRSRRAMSPRRVPLQAPPLAWARWSRPRARGCGEPKPKEPRGNLPGQRTLEGRWASAGTVHVAAT
GGGCRRAAFGFVFKF*

Gene Symbol:CDKN1C
Accession:NM_000076
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWI
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122631
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWIEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001362474
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWI
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122630
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWIEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000806775 CLINVAR
dbSNP (RS) rs1475576590 CLINVAR
MedGen C0004903 CLINVAR
NCBI Gene CDKN1C CLINVAR
OMIM 130650 CLINVAR
  600856 CLINVAR
SNOMED CT 81780002 CLINVAR