Variant #0000677552 (NC_000005.9:g.78322372C>A, DMGDH(NM_013391.3):c.2065G>T)
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78322372C>A |
DNA change (hg38) |
- |
Published as |
DMGDH(NM_013391.3):c.2065G>T (p.E689*) |
ISCN |
- |
DB-ID |
DMGDH_000008 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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