RGD:8558976 Rat Genome Database

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Variant: RGD:8558976 -  Homo sapiens

RGD ID: 8558976
RS ID: rs121434304
ClinVar ID: CV20886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRM6  ZNF454  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 178,416,076
GRCh38 5 178,989,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008105.1:g.11049T>C
NC_000005.10:g.178989075A>G
NC_000005.9:g.178416076A>G
NP_000834.2:p.Ile405Thr
More... 		06/13/2017 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy Night blindness, congenital stationary (complete), 1B, autosomal recessive; NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRM6
Accession:NM_000843
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLEAMLYALDRVN
ADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMV
ANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREA
GGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLE
DVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGK
VQFVTDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNG
SASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPG
DMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFL
MVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARP
PHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFV
PIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK*

Gene Symbol:ZNF454
Accession:NM_001323306
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323309
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178089
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323307
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_182594
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323308
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178090
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323310
Location:INTRON

Gene Symbol:ZNF454
Accession:XR_007058600
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:17405131   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006204 CLINVAR
  RCV000439410 CLINVAR
dbSNP (RS) rs121434304 CLINVAR
MedGen C1850362 CLINVAR
  C3661900 CLINVAR
NCBI Gene GRM6 CLINVAR
  ZNF454 CLINVAR
OMIM 257270 CLINVAR
  604096 CLINVAR
OMIM Allele 604096.0008 CLINVAR