Genomic variant #0000038373

Individual ID 00019938
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2096263G>A
Reference -
DB-ID NTHL1_000001 See all 4 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00104
Allele Count 6
Allele Number 5780
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NTHL1 NM_002528.5 +/+ - c.244C>T r.(?) p.(Leu82Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006888 DNA SEQ 1 NTHL1 1 Despoina Kalfakakou