Genomic variant #0000618210

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50406762C>T
DNA change (hg38) -
Published as SALL4(NM_020436.3):c.2260G>A (p.V754M)
ISCN -
DB-ID SALL4_000045
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) 0.00023 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.2260G>A VUS r.(?) p.(Val754Met)