Variant #0000283841 (NC_000002.11:g.207631446G>C, FASTKD2(NM_001136194.1):c.29G>C)
Chromosome |
2 |
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.207631446G>C |
DNA change (hg38) |
g.206766722G>C |
Published as |
FASTKD2(NM_001136194.1):c.29G>C (p.S10T) |
ISCN |
- |
DB-ID |
FASTKD2_000005 |
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) |
0.00407 View details |
Owner |
VKGL-NL_Utrecht |

Variant on transcripts
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