rs104894603 Rat Genome Database

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Variant: rs104894603 -  Homo sapiens

RGD ID: 8559492
RS ID: rs104894603
ClinVar ID: CV21732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 54,672,233
GRCh38 17 56,594,872
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.6174T>G
NC_000017.11:g.56594872T>G
NC_000017.10:g.54672233T>G
NP_005441.1:p.Trp217Gly
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: W to G (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGGIPIQYPIISECKCSC*

Variant Samples
Additional References at PubMed
PMID:3667255   PMID:10080184  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007081 CLINVAR
dbSNP (RS) rs104894603 CLINVAR
MedGen C0342282 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 186500 CLINVAR
  602991 CLINVAR
OMIM Allele 602991.0003 CLINVAR
SNOMED CT 129580008 CLINVAR