rs1567745119 Rat Genome Database

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Variant: rs1567745119 -  Homo sapiens

RGD ID: 8559504
RS ID: rs1567745119
ClinVar ID: CV21745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 54,672,198
GRCh38 17 56,594,837
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_011958.1:g.6139G>A
NC_000017.11:g.56594837G>A
NC_000017.10:g.54672198G>A
NP_005441.1:p.Trp205Ter
More...
11/06/2012 nonsense pathogenic childhood <1 / 1 000 000 Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism syndrome; Multiple Synostoses Syndrome; Multiple synostoses syndrome 1; Synostoses multiple with brachydactyly; 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: W to * (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLR*RCQRRGGQRCGWIPIQYPIISECKCSC*

Variant Samples
Additional References at PubMed
PMID:16532400  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007098 CLINVAR
dbSNP (RS) rs1567745119 CLINVAR
MedGen C0342282 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 186500 CLINVAR
  602991 CLINVAR
OMIM Allele 602991.0015 CLINVAR
SNOMED CT 129580008 CLINVAR