Variant #0000854318 (NC_000016.9:g.2097781A>G, NM_000548.3:c.-315A>G (TSC2))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2097781A>G
DNA change (hg38) -
Published as NTHL1(NM_002528.7):c.44T>C (p.L15P)
ISCN -
DB-ID NTHL1_000262
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     
TSC2 NM_000548.3 -?/. - c.-315A>G r.(?) p.(=) - -
PKD1 NM_001009944.2 -?/. - c.*41947T>C r.(=) p.(=) - -
NTHL1 NM_002528.5 -?/. - c.68T>C r.(?) p.(Leu23Pro) - -


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