RGD:8565594 Rat Genome Database

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Variant: RGD:8565594 -  Homo sapiens

RGD ID: 8565594
RS ID: rs121909608
ClinVar ID: CV31441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 155,510,657
GRCh38 4 154,589,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008832.1:g.6241A>G
NC_000004.12:g.154589505T>C
NC_000004.11:g.155510657T>C
NP_068657.1:p.Arg38Gly
More... 		07/08/2021 missense|missense variant likely pathogenic|other none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FGA
Accession:NM_021871
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPGVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQD
FTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVR
AQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTAT
WKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGS
GNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKES
SSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRGIHTSPLGKP
SLSP*

Gene Symbol:FGA
Accession:NM_000508
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPGVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQD
FTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVR
AQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTAT
WKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGS
GNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKES
SSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHP
SGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQR
GSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCA
EVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ*
Variant Samples
Additional References at PubMed
PMID:10605955   PMID:23852822   PMID:25320241   PMID:25741868   PMID:26006300   PMID:26577257   PMID:30856382   PMID:31064749   PMID:31314131  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017843 CLINVAR
  RCV000851993 CLINVAR
  RCV002284177 CLINVAR
dbSNP (RS) rs121909608 CLINVAR
MedGen C0553681 CLINVAR
  CN517202 CLINVAR
NCBI Gene FGA CLINVAR
OMIM 134820 CLINVAR
OMIM Allele 134820.0007 CLINVAR