RGD:11089388 Rat Genome Database

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Variant: RGD:11089388 -  Homo sapiens

RGD ID: 11089388
RS ID: rs767343306
ClinVar ID: CV234573
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  TSPAN31  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 58,142,391
GRCh38 12 57,748,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_490:g.8774A>G
NG_007484.2:g.8774A>G
NC_000012.12:g.57748608T>C
NC_000012.11:g.58142391T>C
More... 		07/05/2023 3 prime utr variant|missense variant uncertain significance adult Cancer predisposition; Cutaneous malignant melanoma 3; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN31
Accession:NM_001330169
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_001330168
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_005981
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:XM_024449123
Location:3UTRS;EXON

Gene Symbol:CDK4
Accession:NM_000075
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLPFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000214741 CLINVAR
  RCV000638985 CLINVAR
  RCV002305465 CLINVAR
  RCV003444222 CLINVAR
dbSNP (RS) rs767343306 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1836892 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDK4 CLINVAR
  TSPAN31 CLINVAR
OMIM 123829 CLINVAR
  181035 CLINVAR
  609048 CLINVAR
SNOMED CT 699346009 CLINVAR