Genomic variant #0000000869

Individual ID 00000107
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.219755011T>A
DNA change (hg38) g.218890289T>A
Published as -
ISCN -
DB-ID WNT10A_000001 See all 48 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.01854 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
WNT10A NM_025216.2 ?/. - c.682T>A - r.(?) p.(Phe228Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000107 DNA SEQ-NG - - ADA, BTD, CLN3, CYP21A2, GLB1, MEFV, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, WNT10A 14 LOVD-team, but with Curator vacancy