Variant #0000670027 (NC_000009.11:g.101570336A>T, GALNT12(NM_024642.4):c.356A>T)
Individual ID |
00305210 |
Chromosome |
9 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.101570336A>T |
DNA change (hg38) |
g.98808054A>T |
Published as |
- |
ISCN |
- |
DB-ID |
GALNT12_000010 See all 3 reported entries |
Variant remarks |
8 homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs1137654 |
Origin |
Germline |
Segregation |
- |
Frequency |
8/2792 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.05801 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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