Genomic variant #0000307699

Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50400814G>A
DNA change (hg38) -
Published as SALL4(NM_020436.3):c.3152C>T (p.A1051V)
ISCN -
DB-ID SALL4_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SALL4 NM_020436.3 +/. - c.3152C>T pathogenic r.(?) p.(Ala1051Val)