RGD:13468952 Rat Genome Database

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Variant: RGD:13468952 -  Homo sapiens

RGD ID: 13468952
RS ID: rs148986846
ClinVar ID: CV458710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FRRS1L  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 111,903,799
GRCh38 9 109,141,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_051235.1:g.30773T>C
NC_000009.12:g.109141519A>G
NC_000009.11:g.111903799A>G
NM_014334.2:c.686T>C
More... 		01/12/2022 missense variant likely benign|uncertain significance Epileptic encephalopathy, early infantile, 37; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FRRS1L
Accession:NM_014334
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPPRQHPGVWASLLLLLLTGPAACAASPADDGAGPGGRGPRGRARGDTGADEAVPRHDSSYGTFAGEFYDLRYLSEEG
YPFPTAPPVDPFAKIKVDDCGKTKGCFRYGKPGCNAETCDYFLSYRMIGADVEFELSADTDGWVAVGFSSDKKMGGDDVM
ACVHDDNGRVRIQHFYNAGQWAKEIQRNPARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSIT
RHDIDSPPASERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27236917   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000544819 CLINVAR
  RCV001584359 CLINVAR
dbSNP (RS) rs148986846 CLINVAR
MedGen C3661900 CLINVAR
  C4310770 CLINVAR
NCBI Gene FRRS1L CLINVAR
OMIM 604574 CLINVAR
  616981 CLINVAR