Variant #0000730101 (NC_000003.11:g.13860881C>T, WNT7A(NM_004625.3):c.610G>A)

Individual ID 00331600
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.13860881C>T
DNA change (hg38) g.13819384C>T
Published as NM_004625.3:c.610G>A:p.(Gly204Ser)
ISCN -
DB-ID WNT7A_000007
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WNT7A NM_004625.3 +/. - c.610G>A r.(?) p.(Gly204Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332819 DNA SEQ;SEQ-NG - WES WNT7A 1 LOVD