Variant #0000560361 (NC_000017.10:g.15929920A>C, TTC19(NM_017775.3):c.898A>C)
Chromosome |
17 |
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.15929920A>C |
DNA change (hg38) |
g.16026606A>C |
Published as |
TTC19(NM_001271420.1):c.577A>C (p.I193L) |
ISCN |
- |
DB-ID |
NCOR1_000004 |
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) |
0.00042 View details |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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