Genomic variant #0000035726

Individual ID 00016121
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.1221983_1221991del
DNA change (hg38) -
Published as 898_906del
ISCN -
DB-ID STK11_000514 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Zhiqing Wang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STK11 NM_000455.4 +?/? 7 c.907_915del - r.(?) p.(Ile303_Gln305del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016040 DNA SEQ Blood - STK11 1 Zhiqing Wang