mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain) | ||||||||||||
Summary |
|
hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
name of alteration | no title | |||||||||||||
alteration (phys. location) | chr10:123274794T>CN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | FGFR2 | |||||||||||||
Ensembl transcript ID | ENST00000369060 | |||||||||||||
Genbank transcript ID | NM_001144917 | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | intron | |||||||||||||
DNA changes | g.83179A>G | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs121913478
Allele 'C' was neither found in ExAC nor 1000G. known disease mutation: rs13277 (pathogenic for Crouzon syndrome|Neoplasm of stomach|Endometrial carcinoma|Acrocephalosyndactyly type I|Saethre-Chotzen syndrome|Pfeiffer syndrome|Jackson-Weiss syndrome|Beare-Stevenson cutis gyrata syndrome|Levy-Hollister syndrome|Scaphocephaly, maxillary retrusion, and mental retardation|Bent bone dysplasia syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Endometrial neoplasm|FGFR2 related craniosynostosis|not provided) dbSNP NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM960653) known disease mutation at this position, please check HGMD for details (HGMD ID CM960653) known disease mutation at this position, please check HGMD for details (HGMD ID CM960653) | |||||||||||||
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
phyloP / phastCons |
| |||||||||||||
splice sites | no abrogation of potential splice sites | |||||||||||||
distance from splice site | 4699 | |||||||||||||
Kozak consensus sequence altered? | N/A | |||||||||||||
conservation protein level for non-synonymous changes | N/A | |||||||||||||
protein features | N/A | |||||||||||||
length of protein | N/A | |||||||||||||
AA sequence altered | N/A | |||||||||||||
position of stopcodon in wt / mu CDS | N/A | |||||||||||||
position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
poly(A) signal | N/A | |||||||||||||
conservation nucleotide level for all changes - no scoring up to now | N/A | |||||||||||||
position of start ATG in wt / mu cDNA | 488 / 488 | |||||||||||||
chromosome | 10 | |||||||||||||
strand | -1 | |||||||||||||
last intron/exon boundary | 2441 | |||||||||||||
theoretical NMD boundary in CDS | 1903 | |||||||||||||
length of CDS | 2118 | |||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | N/A | |||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 83179 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 123274794 | |||||||||||||
original gDNA sequence snippet | GATTACAGCTTCCCCAGACTACCTGGAGATAGCCATTTACT | |||||||||||||
altered gDNA sequence snippet | GATTACAGCTTCCCCAGACTGCCTGGAGATAGCCATTTACT | |||||||||||||
original cDNA sequence snippet | N/A | |||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||
wildtype AA sequence | MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK YGPDGLPYLK VLKVSAESSS SMNSNTPLVR ITTRLSSTAD TPMLAGVSEY ELPEDPKWEF PRDKLTLGKP LGEGCFGQVV MAEAVGIDKD KPKEAVTVAV KMLKDDATEK DLSDLVSEME MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL RARRPPGMEY SYDINRVPEE QMTFKDLVSC TYQLARGMEY LASQKCIHRD LAARNVLVTE NNVMKIADFG LARDINNIDY YKKTTNGRLP VKWMAPEALF DRVYTHQSDV WSFGVLMWEI FTLGGSPYPG IPVEELFKLL KEGHRMDKPA NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRILTLTTN EEYLDLSQPL EQYSPSYPDT RSSCSSGDDS VFSPDPMPYE PCLPQYPHIN GSVKT* | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.38 s | |||||||||||||