Genomic variant #0000140624

Individual ID 00088075
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150531472G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ADAMTSL4_000010 See all 2 reported entries
Variant remarks Highly conserved nucleotide (phyloP: 5.61 [-14.1;6.4])Highly conserved amino acid, up to Opossum (considering 9 species)Small physicochemical difference between Arg and His (Grantham dist.: 29 [0-215])This variation is in protein domain: Thrombospondin, type 1 repeatAlign GVGD: C25 (GV: 0.00 - GD: 28.82)SIFT: Deleterious (score: 0)
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ADAMTSL4 NM_019032.4 +/. 14 c.2594G>A - r.(?) p.(Arg865His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088215 DNA SEQ - - ADAMTSL4 3 Andreas Laner