Variant #0000253048 (NC_000010.10:g.123310871A>G, FGFR2(NM_000141.4):c.557T>C)
Chromosome |
10 |
Allele |
Unknown |
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.123310871A>G |
DNA change (hg38) |
g.121551357A>G |
Published as |
FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T) |
ISCN |
- |
DB-ID |
FGFR2_000080 See all 3 reported entries |
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) |
0.04459 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |

Variant on transcripts
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