Genomic variant #0000564072

Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.19752073_19752074insACCACC
DNA change (hg38) -
Published as GATA6(NM_005257.4):c.967_968insACCACC (p.(Tyr323_His324insHisHis))
ISCN -
DB-ID GATA6_000021
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GATA6 NM_005257.4 ?/. - c.968_969insACCACC VUS r.(?) p.(Tyr323*)