RGD:26884758 Rat Genome Database

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Variant: RGD:26884758 -  Homo sapiens

RGD ID: 26884758
RS ID: rs1848981921
ClinVar ID: CV838290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1C  LOC127820205  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,906,671
GRCh38 11 2,885,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_533:g.5325G>C
NG_008022.1:g.5325G>C
NC_000011.10:g.2885441C>G
LRG_533p1:p.Ala17Pro
More... 		04/05/2019 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_000076
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVPRGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWT
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001362475
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVPRGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFY
RETVQISSPSARDQRLRSRRAMSPRRVPLQAPPLAWARWSRPRARGCGEPKPKEPRGNLPGQRTLEGRWASAGTVHVAAT
GGGCRRAAFGFVFKF*

Gene Symbol:CDKN1C
Accession:NM_001362474
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDASLRSTSTMERLVPRGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWT
EVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAP
APAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122631
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVPRGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*

Gene Symbol:CDKN1C
Accession:NM_001122630
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERLVPRGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPGRLQWTEVDSDSVPAFY
RETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAA
PVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLADQLHSGISGRPA
AGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSAAPGVGSVEQTPRKRLR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001043134 CLINVAR
dbSNP (RS) rs1848981921 CLINVAR
MedGen C0004903 CLINVAR
NCBI Gene CDKN1C CLINVAR
OMIM 130650 CLINVAR
  600856 CLINVAR
SNOMED CT 81780002 CLINVAR