Genomic variant #0000140603

Individual ID 00088075
Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.150526393G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ADAMTSL4_000012 See all 2 reported entries
Variant remarks Patient has 2 probably pathogenic mutations in ADAMTSL4
Reference -
ClinVar ID -
dbSNP ID rs76075180
Origin Unknown
Segregation -
Frequency MAF A 0,039/84
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00139 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ADAMTSL4 NM_019032.4 -?/-? 6 c.926G>A - r.(?) p.(Arg309Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088215 DNA SEQ - - ADAMTSL4 3 Andreas Laner