RGD:13538901 Rat Genome Database

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Variant: RGD:13538901 -  Homo sapiens

RGD ID: 13538901
RS ID: rs188641164
ClinVar ID: CV504995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  TSPAN31  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,142,954
GRCh38 12 57,749,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_490:g.8211T>C
NG_007484.2:g.8211T>C
NC_000012.12:g.57749171A>G
NC_000012.11:g.58142954A>G
More...
10/05/2022 3 prime utr variant|intron variant likely benign AllHighlyPenetrant; Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN31
Accession:NM_005981
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_001330169
Location:3UTRS;EXON

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

Gene Symbol:CDK4
Accession:NM_000075
Location:INTRON

Gene Symbol:TSPAN31
Accession:XM_024449123
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000612517 CLINVAR
  RCV002066871 CLINVAR
dbSNP (RS) rs188641164 CLINVAR
MedGen C1512419 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDK4 CLINVAR
  TSPAN31 CLINVAR
OMIM 123829 CLINVAR
  181035 CLINVAR