Genomic variant #0000016732

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.136574922_136574926delCCACT
DNA change (hg38) g.135817352_135817356delCCACT
Published as c.1692-1696delAGTGG: V565fsX567
ISCN -
DB-ID LCT_000003
Variant remarks 1 Finnish patient (com-het) with lactase deficiency, congenital
Reference PubMed: Torniainen et al. 2009
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/98 FIN CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCT NM_002299.2 +/+ 6 c.1692_1696delAGTGG - r.(1692_1696delagugg) p.(Val565Leufs*3)