Variant #0000096878 (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 |

Variant on transcripts
Screenings
|
|