Variant #0000725516 (NC_000016.9:g.2093737_2093738del, NM_000548.3:c.-4359_-4358del (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.2093737_2093738del
DNA change (hg38) -
Published as NTHL1(NM_002528.7):c.526-11_526-10delCT
ISCN -
DB-ID NTHL1_000232 See all 2 reported entries
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) 0.00017 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-02-08 18:36:18 +01:00 (CET)
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.-4359_-4358del r.(?) p.(=) - -
PKD1 NM_001009944.2 -?/. - c.*45990_*45991del r.(=) p.(=) - -
SLC9A3R2 NM_001130012.2 -?/. - c.*5752_*5753del r.(=) p.(=) - -
NTHL1 NM_002528.5 -?/. - c.550-11_550-10del r.(=) p.(=) - -


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