Variant #0000096876 (NC_000016.9:g.79632905G>T, MAF(NM_001031804.2):c.895C>A)

Individual ID 00065072
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.79632905G>T
DNA change (hg38) g.79599008G>T
Published as -
ISCN -
DB-ID MAF_000008 See all 3 reported entries
Variant remarks -
Reference PubMed: Hansen 2007
ClinVar ID -
dbSNP ID -
Origin Germline
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 +?/. - c.895C>A r.(?) p.(Arg299Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065214 DNA;protein arraySNP - - MAF 3 Deepti Anand