RGD:11546332 Rat Genome Database

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Variant: RGD:11546332 -  Homo sapiens

RGD ID: 11546332
RS ID: rs6031
ClinVar ID: CV249511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 169,511,903
GRCh38 1 169,542,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_553t1:c.2425C>T
LRG_553:g.48867C>T
NG_011806.1:g.48867C>T
NC_000001.11:g.169542665G>A
More...
05/05/2021 missense variant benign|likely benign all ages 1-9 / 1 000 000|1-9 / 100 000|20210g>a heterozygosity occurs in 1.7%-3% of the general us and european populations; in the us, the prevalence of 20210g>a heterozygosity is 2%-5% in whites and 0%-0.3% in african americans; among adults with vte, 20210g>a heterozygosity is present in 6%-14% of those with a first vte, and 18%-21% of those with a personal or family history of recurrent vte; the prevalence of 20210g>a homozygosity is approximately one in 10,000. double heterozygosity for the 20210g>a and factor v leiden alleles occurs in approximately one in 1000 individuals in the general population and 2%-4.5% of persons with vte|heterozygosity for factor v leiden occurs in 3%-8% of the general us and european populations; the mutation is extremely rare in asian, african, and indigenous australian populations. the factor v leiden mutation is present in approximately 15%-20% of individuals with a first dvt; and up to 50% of individuals with recurrent venous thromboembolism or an estrogen-related thrombosis. AllHighlyPenetrant; APC RESISTANCE; Hepatic vein obstruction; Hereditary factor V deficiency disease; Hereditary Resistance to Activated Protein C; LABILE FACTOR DEFICIENCY; none provided; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; Prothrombin-Related Thrombophilia (Factor II); Reduced coagulation factor V activity; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; THROMBOPHILIA V; Thrombosis susceptibility
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F5
Accession:NM_000130
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 809
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQS
TISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGP
THDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNG
TMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGM
QAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYE
DESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGET
YTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLE
DNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDT
LTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEES
DADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSH
QQATTAGSSLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRF
SWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQ
DTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHH
APLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQT
VPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDL
SHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPD
PSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSP
DISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGT
DYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRE
TDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS
SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDS
NMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIH
VVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISD
SQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSN
QINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENK
QITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQ
GVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000246320 CLINVAR
  RCV000266730 CLINVAR
  RCV000272537 CLINVAR
  RCV000307790 CLINVAR
  RCV000358225 CLINVAR
  RCV001707567 CLINVAR
  RCV003761844 CLINVAR
dbSNP (RS) rs6031 CLINVAR
MedGen C0015499 CLINVAR
  C0856761 CLINVAR
  C1861171 CLINVAR
  C3160733 CLINVAR
  C3661900 CLINVAR
  C4317320 CLINVAR
  CN169374 CLINVAR
NCBI Gene F5 CLINVAR
OMIM 188050 CLINVAR
  188055 CLINVAR
  227400 CLINVAR
  600880 CLINVAR
  612309 CLINVAR
SNOMED CT 4320005 CLINVAR
  82385007 CLINVAR
  88776002 CLINVAR