Variant #0000664364 (NC_000002.11:g.10192552A>G, KLF11(NM_003597.4):c.1457A>G)

Individual ID 00300310
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.10192552A>G
DNA change (hg38) g.10052425A>G
Published as -
ISCN -
DB-ID KLF11_000031
Variant remarks ACMG grading: PM2,PP3
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KLF11 NM_003597.4 ?/. - c.1457A>G r.(?) p.(Gln486Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301431 DNA SEQ-NG-S - - - 2 Andreas Laner