Variant #0000609122 (NC_000004.11:g.178360811G>T, AGA(NM_000027.3):c.313C>A)
Chromosome |
4 |
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.178360811G>T |
DNA change (hg38) |
g.177439657G>T |
Published as |
AGA(NM_000027.3):c.313C>A (p.(Leu105Ile)) |
ISCN |
- |
DB-ID |
AGA_000050 See all 2 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 (large NGS studies) |
0.00985 View details |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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