RGD:151809673 Rat Genome Database

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Variant: RGD:151809673 -  Homo sapiens

RGD ID: 151809673
RS ID: rs770849989
ClinVar ID: CV1497097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FARSB  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 223,520,768
GRCh38 2 222,656,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005687.5:c.25G>T
NC_000002.12:g.222656049C>A
NC_000002.11:g.223520768C>A
NR_130154.2:n.44G>T
More... 		08/24/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FARSB
Accession:XM_006712169
Location:5UTRS;EXON

Gene Symbol:FARSB
Accession:XM_011510466
Location:5UTRS;EXON

Gene Symbol:FARSB
Accession:NM_005687
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVSVKRYLLFQALGRTYTDEEFDELCFEFGLELDEITSEKEIISKEQGNVKAAGASDVVLYKIDVPANRYDLLCLEGL
VRGLQVFKERIKAPVYKRVMPDGKIQKLIITEETAKIRPFAVAAVLRNIKFTKDRYDSFIELQEKLHQNICRKRALVAIG
THDLDTLSGPFTYTAKRPSDIKFKPLNKTKEYTACELMNIYKTDNHLKHYLHIIENKPLYPVIYDSNGVVLSMPPIINGD
HSRITVNTRNIFIECTGTDFTKAKIVLDIIVTMFSEYCENQFTVEAAEVVFPNGKSHTFPELAYRKEMVRADLINKKVGI
RETPENLAKLLTRMYLKSEVIGDGNQIEIEIPPTRADIIHACDIVEDAAIAYGYNNIQMTLPKTYTIANQFPLNKLTELL
RHDMAAAGFTEALTFALCSQEDIADKLGVDISATKAVHISNPKTAEFQVARTTLLPGLLKTIAANRKMPLPLKLFEISDI
VIKDSNTDVGAKNYRHLCAVYYNKNPGFEIIHGLLDRIMQLLDVPPGEDKGGYVIKASEGPAFFPGRCAEIFARGQSVGK
LGVLHPDVITKFELTMPCSSLEINVGPFL*

Gene Symbol:FARSB
Accession:NR_130154
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001974650 CLINVAR
dbSNP (RS) rs770849989 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FARSB CLINVAR
OMIM 609690 CLINVAR