Variant #0000140594 (NC_000001.10:g.150526044G>C, ADAMTSL4(NM_019032.4):c.577G>C)

Individual ID 00088077
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.150526044G>C
DNA change (hg38) g.150553568G>C
Published as -
ISCN -
DB-ID ADAMTSL4_000003 See all 7 reported entries
Variant remarks Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)
Reference -
ClinVar ID -
dbSNP ID rs41317515
Origin Unknown
Segregation -
Frequency MAF G=0.4431/964
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.54706 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADAMTSL4 NM_019032.4 -/- 5 c.577G>C r.(?) p.(Ala193Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088217 DNA SEQ - - ADAMTSL4 5 Andreas Laner