Variant #0000011479 (NC_000009.12:g.98807709G>A, GALNT12(NM_024642.5):c.11G>A)

Individual ID 00005026
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.98807709G>A
Reference -
DB-ID GALNT12_000012
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andres Rodriguez-Instituto Fleming
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     
GALNT12 NM_024642.5 ?/? 1 c.11G>A p.(Arg4His) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009202 - SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2 22-may-2025 Multigenetic panel - 3 Andres Rodriguez-Instituto Fleming

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There is an LOVD update available.