RGD:28892428 Rat Genome Database

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Variant: RGD:28892428 -  Homo sapiens

RGD ID: 28892428
RS ID: rs1643862681
ClinVar ID: CV864359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 40,759,141
GRCh38 1 40,293,469
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005857.5:c.*800T>C
LRG_212:g.40409T>C
NG_008695.1:g.40409T>C
NC_000001.11:g.40293469T>C
More...
01/12/2018 3 prime utr variant uncertain significance Fetal hypokinesia sequence due to restrictive dermopathy; Hyperkeratosis-contracture syndrome; Lipodystrophy, type B, associated with mandibuloacral dysplasia; Restrictive dermopathy; Restrictive dermopathy, lethal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:3UTRS;EXON

Gene Symbol:ZMPSTE24
Accession:XM_047427582
Location:3UTRS;EXON

Gene Symbol:ZMPSTE24
Accession:XM_047427590
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001100567 CLINVAR
  RCV001100568 CLINVAR
dbSNP (RS) rs1643862681 CLINVAR
MedGen C0406585 CLINVAR
  C1837756 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR
  608612 CLINVAR
SNOMED CT 400128006 CLINVAR