Variant #0000493872 (NC_000012.11:g.121416412_121416418dup, HNF1A(NM_000545.5):c.-160_-154dup)

Individual ID 00242082
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.121416412_121416418dup
DNA change (hg38) g.120978609_120978615dup
Published as -
ISCN -
DB-ID HNF1A_000023 See all 12 reported entries
Variant remarks -
Reference M. Losekoot
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 Monique Losekoot
Database submission license No license selected
Created by Monique Losekoot
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 -/- _1 c.-160_-154dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000243193 DNA SEQ - - HNF1A 11 Monique Losekoot