Variant #0000096884 (NC_000016.9:g.79633594G>C, MAF(NM_001031804.2):c.206C>G)

Individual ID 00065076
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79633594G>C
DNA change (hg38) g.79599697G>C
Published as -
ISCN -
DB-ID MAF_000012
Variant remarks -
Reference PubMed: Niceta 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Deepti Anand
Database submission license No license selected
Created by Deepti Anand
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAF NM_001031804.2 +/. 1 c.206C>G r.(?) p.(Pro69Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065218 DNA;protein arraySNP - - MAF 8 Deepti Anand