RGD:15126864 Rat Genome Database

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Variant: RGD:15126864 -  Homo sapiens

RGD ID: 15126864
RS ID: rs1572215263
ClinVar ID: CV683296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDC73  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 193,202,129
GRCh38 1 193,232,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024529.5:c.1161C>T
NG_012691.1:g.116042C>T
NC_000001.11:g.193232999C>T
NC_000001.10:g.193202129C>T
More... 		08/04/2019 synonymous variant likely benign Cancer predisposition; CDC73-Related Parathyroid Carcinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Parathyroid cancer; Parathyroid gland carcinoma; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDC73
Accession:NM_024529
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 387
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAAT
ENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGH
KEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQS
TGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTL
KSVTEGASARKTQTPAAQPVPRPVSQARPPPNQKKGSRTPIIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRE
NETLIQRRKDQMQPGGTAISVTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKY
DEVRLDPNVQKWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF*

Gene Symbol:CDC73
Accession:XM_006711537
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862822 CLINVAR
  RCV001010050 CLINVAR
  RCV003413677 CLINVAR
dbSNP (RS) rs1572215263 CLINVAR
MedGen C0027672 CLINVAR
  C0687150 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDC73 CLINVAR
OMIM 607393 CLINVAR
  608266 CLINVAR
SNOMED CT 255037004 CLINVAR
  699346009 CLINVAR