Genomic variant #0000564082

Chromosome 18
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.19757102C>T
DNA change (hg38) -
Published as GATA6(NM_005257.4):c.1302+20C>T (p.(=))
ISCN -
DB-ID GATA6_000030
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) 0.02297 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GATA6 NM_005257.4 -/. - c.1302+20C>T benign r.(=) p.(=)