Variant #0000651769 (NC_000005.9:g.78301172C>T, DMGDH(NM_013391.3):c.2309G>A)
Individual ID |
00293912 |
Chromosome |
5 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78301172C>T |
DNA change (hg38) |
g.79005349C>T |
Published as |
- |
ISCN |
- |
DB-ID |
DMGDH_000006 |
Variant remarks |
6 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs41272262 |
Origin |
Germline |
Segregation |
- |
Frequency |
6/2794 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00184 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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