Genomic variant #0000325844

Chromosome 18
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.19751148G>C
DNA change (hg38) -
Published as GATA6(NM_005257.5):c.43G>C (p.G15R)
ISCN -
DB-ID GATA6_000001 See all 3 reported entries
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) 0.02131 View details
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GATA6 NM_005257.4 -?/. - c.43G>C likely benign r.(?) p.(Gly15Arg)