RGD:8591260 Rat Genome Database

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Variant: RGD:8591260 -  Homo sapiens

RGD ID: 8591260
RS ID: rs587777262
ClinVar ID: CV131951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ST14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 130,078,580
GRCh38 11 130,208,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012132.1:g.53899G>A
NC_000011.10:g.130208685G>A
NC_000011.9:g.130078580G>A
NM_021978.4:c.2269+1G>A
More... 		04/01/2014 splice donor variant pathogenic neonatal/infancy <1 / 1 000 000 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ST14
Accession:NM_021978
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9450882   PMID:18843291  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114359 CLINVAR
dbSNP (RS) rs587777262 CLINVAR
MedGen C1835851 CLINVAR
NCBI Gene ST14 CLINVAR
OMIM 602400 CLINVAR
  606797 CLINVAR
  610765 CLINVAR
OMIM Allele 606797.0003 CLINVAR