Variant #0000062928 (NC_000002.11:g.207631461G>A, FASTKD2(NM_001136194.1):c.44G>A)
Individual ID |
00035733 |
Chromosome |
2 |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.207631461G>A |
DNA change (hg38) |
g.206766737G>A |
Published as |
- |
ISCN |
- |
DB-ID |
FASTKD2_000004 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs3762568 |
Origin |
Germline |
Segregation |
- |
Frequency |
frequency 12-20% |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.07907 View details |
Owner |
Andreas Laner |

Variant on transcripts
Screenings
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