Variant #0000048383 (NC_000006.11:g.86223575G>A, SNX14(NM_153816.3):c.2596C>T)
Individual ID |
00025487 |
Chromosome |
6 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.86223575G>A |
DNA change (hg38) |
g.85513857G>A |
Published as |
- |
ISCN |
- |
DB-ID |
SNX14_000001 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Thomas 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |

Variant on transcripts
Screenings
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