RGD:13794549 Rat Genome Database

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Variant: RGD:13794549 -  Homo sapiens

RGD ID: 13794549
RS ID: rs1569442989
ClinVar ID: CV552243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 122,613,997
GRCh38 X 123,480,146
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000828.5:c.2440-2653G>A
NM_007325.5:c.2408G>A
NP_015564.5:p.Gly803Glu
NC_000023.11:g.123480146G>A
More... 		03/29/2021 intron variant likely pathogenic|uncertain significance MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIA3
Accession:NM_007325
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 803
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDS
SNSFSVTNAFCSQFSRGVYAIFGFYDQMSMNTLTSFCGALHTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEK
FVYLYDTERGFSILQAIMEAAVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCEVERINTILEQVVILGKHS
RGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKNAPLKYTSALTHDAILVIAEA
FRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKMVQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWN
EYERFVPFSDQQISNDSASSENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKY
GARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIWMCIV
FAYIGVSVVLFLVSRFSPYEWHLEDNNEEPRDPQSPPDPPNEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFF
TLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWSYMKSAEPSVFTKTTAD
GVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSALRTPVNLAVLKLSEQGILDKLKNKWWY
DKEECGAKDSGSKDKTSALSLSNVAGVFYILVGGLGLAMMVALIEFCYKSRAESKRMKLTKNTQNFKPAPATNTQNYATY
REGYNVYGTESVKI*

Gene Symbol:GRIA3
Accession:NM_001256743
Location:INTRON

Gene Symbol:GRIA3
Accession:NM_000828
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25326635   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000679996 CLINVAR
  RCV001375008 CLINVAR
dbSNP (RS) rs1569442989 CLINVAR
MedGen C1535926 CLINVAR
  C2678051 CLINVAR
NCBI Gene GRIA3 CLINVAR
OMIM 300699 CLINVAR
  305915 CLINVAR