Variant #0000330191 (NC_000004.11:g.178363512G>T, AGA(NM_000027.3):c.18C>A)
Chromosome |
4 |
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.178363512G>T |
DNA change (hg38) |
g.177442358G>T |
Published as |
AGA(NM_000027.3):c.18C>A (p.(Asn6Lys)) |
ISCN |
- |
DB-ID |
AGA_000040 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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