RGD:405852611 Rat Genome Database

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Variant: RGD:405852611 -  Homo sapiens

RGD ID: 405852611
ClinVar ID: CV3396278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 54,672,250
GRCh38 17 56,594,889
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005450.6:c.666C>G
NG_011958.1:g.6191C>G
NC_000017.11:g.56594889C>G
NC_000017.10:g.54672250C>G
More...
nonsense pathogenic Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism 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: Y to * (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQ*PIISECKCSC*

Variant Samples
Additional References at PubMed
PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004557231 CLINVAR
MedGen C0342282 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 186500 CLINVAR
  602991 CLINVAR
SNOMED CT 129580008 CLINVAR