Variant #0000651770 (NC_000005.9:g.78338202T>C, DMGDH(NM_013391.3):c.1097A>G)
Individual ID |
00293913 |
Chromosome |
5 |
Allele |
Parent #1 |
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.78338202T>C |
DNA change (hg38) |
g.79042379T>C |
Published as |
- |
ISCN |
- |
DB-ID |
DMGDH_000007 See all 2 reported entries |
Variant remarks |
48 heterozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs77116243 |
Origin |
Germline |
Segregation |
- |
Frequency |
48/2790 individuals |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.01104 View details |
Owner |
Mohammed Faruq |

Variant on transcripts
Screenings
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