Variant #0000509272 (NC_000002.11:g.136566588_136566592del, NM_002299.2:c.3327_3331del (LCT))

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136566588_136566592del
DNA change (hg38) g.135809018_135809022del
Published as LCT(NM_002299.2):c.3327_3331delTGAGA (p.D1109Efs*34)
ISCN -
DB-ID LCT_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCT NM_002299.2 +/. - c.3327_3331del r.(?) p.(Asp1109GlufsTer34)


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