Variant #0000517798 (NC_000003.11:g.128614228C>T, NM_014049.4:c.422C>T (ACAD9))
Chromosome |
3 |
Allele |
Unknown |
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.128614228C>T |
DNA change (hg38) |
g.128895385C>T |
Published as |
ACAD9(NM_014049.4):c.422C>T (p.T141I), ACAD9(NM_014049.5):c.422C>T (p.(Thr141Ile), p.T141I) |
ISCN |
- |
DB-ID |
ACAD9_000035 See all 3 reported entries |
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) |
7.0E-5 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2024-04-19 20:27:30 +02:00 (CEST) |

Variant on transcripts
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