Variant #0000011615 (NC_000007.14:g.116775126G>A, MET(NM_000245.4):c.3274G>A)

Individual ID 00005208
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.116775126G>A
Reference -
DB-ID chr7_000005
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Instituto Nacional del Cancer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
MET NM_000245.4 +?/+? 15 c.3274G>A p.Val1092lle Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009392 DNA SEQ-NG GENOS ALK, APC, ATM, AXIN2, ACVRL1, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, CFTR, EPCAM, EXT1, EXT2, ENG, EPAS1, FANCG, FH, FLCN, FANCC, GALNT12, GREM1, KIT, MAX, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, MC1R, MDH2, MITF, MSR1, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC 30-dec-2024 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano

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