Genomic variant #0000442550

Individual ID 00210054
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35943026G>A
DNA change (hg38) g.35546979G>A
Published as -
ISCN -
DB-ID RASD2_000001
Variant remarks -
Reference PubMed: Vadgama 2019, Journal: Vadgama 2019
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Nirmal Vadgama
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASD2 NM_014310.3 +?/. - c.170G>A r.(?) p.(Arg57His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211113 DNA SEQ-NG Buccal WES - 3 Nirmal Vadgama