RGD:8599867 Rat Genome Database

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Variant: RGD:8599867 -  Homo sapiens

RGD ID: 8599867
RS ID: rs59151893
ClinVar ID: CV29626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT17  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 39,780,487
GRCh38 17 41,624,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008625.1:g.5396A>G
NC_000017.11:g.41624235T>C
NC_000017.10:g.39780487T>C
Q04695:p.Asn92Ser
More... 		07/12/2022 missense|missense variant pathogenic|likely pathogenic|not provided all ages|variable Disseminated sebocystomatosis; Jackson-Lawler syndrome; Multiple sebaceous cysts; none provided; Pachyonychia congenita Jackson Lawler type; PC-K17; Sebocystomatosis; Steatocystoma multiplex
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KRT17
Accession:NM_000422
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSAGGLGSTLGGSSYSSCYSFGSGGGYGSSFGGVDGLL
AGGEKATMQNLSDRLASYLDKVRALEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATVDNANILLQID
NARLAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNHEEEMNALRGQVGGEINVE
MDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEELNREVATNSELVQSGKSEISELRRTMQALEIELQSQLSM
KASLEGNLAETENRYCVQLSQIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLTQYKK
EPVTTRQVRTIVEEVQDGKVISSREQVHQTTR*
Variant Samples
Additional References at PubMed
PMID:2248894   PMID:7529318   PMID:9008238   PMID:9767294   PMID:22336949   PMID:25741868   PMID:28492532   PMID:31823354  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015689 CLINVAR
  RCV000056512 CLINVAR
  RCV001836709 CLINVAR
  RCV002496373 CLINVAR
dbSNP (RS) rs59151893 CLINVAR
MedGen C0037268 CLINVAR
  C1721007 CLINVAR
  C3661900 CLINVAR
NCBI Gene KRT17 CLINVAR
OMIM 148069 CLINVAR
  167210 CLINVAR
  184500 CLINVAR
OMIM Allele 148069.0002 CLINVAR
SNOMED CT 109433009 CLINVAR