RGD:12888093 Rat Genome Database

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Variant: RGD:12888093 -  Homo sapiens

RGD ID: 12888093
RS ID: rs750061873
ClinVar ID: CV399537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  TSPAN31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 58,142,377
GRCh38 12 57,748,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330168.2:c.*1304G>A
LRG_490:g.8788C>T
NG_007484.2:g.8788C>T
NC_000012.12:g.57748594G>A
More... 		04/09/2018 3 prime utr variant|synonymous variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN31
Accession:NM_001330168
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_001330169
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: H to Q (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPQKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000470264 CLINVAR
  RCV001017774 CLINVAR
dbSNP (RS) rs750061873 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  TSPAN31 CLINVAR
OMIM 123829 CLINVAR
  181035 CLINVAR
SNOMED CT 699346009 CLINVAR