Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.000446116846742042 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM082673)
  • known disease mutation: rs9123 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:103534925A>GN/A show variant in all transcripts   IGV
HGNC symbol FGF8
Ensembl transcript ID ENST00000347978
Genbank transcript ID NM_006119
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.903T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137852661
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs9123 (pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082673)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082673)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082673)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4390.025
-0.6150.039
(flanking)0.840.628
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 256
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 171 / 171
chromosome 10
strand -1
last intron/exon boundary 528
theoretical NMD boundary in CDS 307
length of CDS 648
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)		 903
chromosomal position
(for ins/del: last normal base / first normal base)		 103534925
original gDNA sequence snippet GCAGGGAGCTCGCTTCCCTGTTCCGGGCTGGCCGGGAGCCC
altered gDNA sequence snippet GCAGGGAGCTCGCTTCCCTGCTCCGGGCTGGCCGGGAGCCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGSPRSALSC LLLHLLVLCL QAQVTVQSSP NFTQHVREQS LVTDQLSRRL IRTYQLYSRT
SGKHVQVLAN KRINAMAEDG DPFAKLIVET DTFGSRVRVR GAETGLYICM NKKGKLIAKS
NGKGKDCVFT EIVLENNYTA LQNAKYEGWY MAFTRKGRPR KGSKTRQHQR EVHFMKRLPR
GHHTTEQSLR FEFLNYPPFT RSLRGSQRTW APEPR*
mutated AA sequence N/A
speed 1.06 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project