Variant #0000009412 (NC_000017.11:g.31181482T>C, NF1(NM_000267.3):c.647T>C)

Individual ID 00002161
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.31181482T>C
Reference -
DB-ID NF1_000017
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
NF1 NM_000267.3 +/+ 6 c.647T>C p.(Leu216Pro) Hetero N/A r.(647u>c) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002449 DNA SEQ-NG Fundación para el Progreso de la Medicina Panel Cancer Hereditario Custom (13 genes) FH, MAX, MEN1, NF1, NF2, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL 1-nov-2022 Multigenetic panel - 1 Norma Rossi - Sanatorio Allende