rs387906844 Rat Genome Database

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Variant: rs387906844 -  Homo sapiens

RGD ID: 8568248
RS ID: rs387906844
ClinVar ID: CV39246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 54,672,280
GRCh38 17 56,594,919
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.6221C>G
NC_000017.11:g.56594919C>G
NC_000017.10:g.54672280C>G
NP_005441.1:p.Cys232Trp
More...
11/06/2012 missense|missense variant 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: C to W (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSW*

Variant Samples
Additional References at PubMed
PMID:17609215   PMID:20503332  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023225 CLINVAR
dbSNP (RS) rs387906844 CLINVAR
MedGen C0342282 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 186500 CLINVAR
  602991 CLINVAR
OMIM Allele 602991.0019 CLINVAR
SNOMED CT 129580008 CLINVAR