Variant #0000000362 (NC_000016.9:g.2096239G>A, NM_002528.5:c.268C>T (NTHL1))

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2096239G>A
Reference -
DB-ID NTHL1_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00143 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2023-07-17 14:02:37 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NTHL1 NM_002528.5 +/+ - c.268C>T r.(?) p.(Gln90*)