Genomic variant #0000569978

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50408260G>A
DNA change (hg38) -
Published as SALL4(NM_001318031.1):c.762C>T (p.A254=)
ISCN -
DB-ID SALL4_000040
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00069 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.762C>T likely benign r.(?) p.(=)