RGD:150550391 Rat Genome Database

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Variant: RGD:150550391 -  Homo sapiens

RGD ID: 150550391
RS ID: rs1730655687
ClinVar ID: CV1300222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 155,505,463
GRCh38 4 154,584,311
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000508.5:c.2414G>C
LRG_557:g.11435G>C
NC_000004.12:g.154584311C>G
NC_000004.11:g.155505463C>G
More... 		11/08/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FGA
Accession:NM_000508
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 805
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQD
FTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVR
AQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTAT
WKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGS
GNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKES
SSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHP
SGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQR
GSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCA
EVYGAGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ*

Gene Symbol:FGA
Accession:NM_021871
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001765692 CLINVAR
dbSNP (RS) rs1730655687 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FGA CLINVAR
OMIM 134820 CLINVAR