Genomic variant #0000140620

Individual ID 00088077
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.150531050G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ADAMTSL4_000005 See all 8 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs10749657
Origin Unknown
Segregation -
Frequency MAF G=0.1180/256
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.84353 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ADAMTSL4 NM_019032.4 -/- 14 c.2484G>A - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088217 DNA SEQ - - ADAMTSL4 5 Andreas Laner