Variant #0000320444 (NC_000001.10:g.1469330G>A, ATAD3A(NM_018188.3):c.1783G>A)
Chromosome |
1 |
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.1469330G>A |
DNA change (hg38) |
g.1533950G>A |
Published as |
ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg)) |
ISCN |
- |
DB-ID |
ATAD3A_000008 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
5.0E-5 View details |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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