rs2145567008 Rat Genome Database

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Variant: rs2145567008 -  Homo sapiens

RGD ID: 8559499
RS ID: rs2145567008
ClinVar ID: CV21740
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: NOG  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 17 54,671,643
GRCh38 17 56,594,282
JBrowse: View Region in Genome Browser (JBrowse)



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_005450.6:c.58del
NG_011958.1:g.5583del
NC_000017.11:g.56594281del
NC_000017.10:g.54671642del
More... 		11/06/2012 frameshift variant pathogenic childhood <1 / 1 000 000 Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism syndrome; Multiple synostoses syndrome 1; WL syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOG
Accession:NM_005450
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGRRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC*
Variant Samples
Additional References at PubMed
PMID:6638061   PMID:11846737  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007091 CLINVAR
dbSNP (RS) rs2145567008 CLINVAR
MedGen C0342282 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 186500 CLINVAR
  602991 CLINVAR
OMIM Allele 602991.0011 CLINVAR
SNOMED CT 129580008 CLINVAR