Variant #0000578026 (NC_000005.9:g.176820765G>A, NC_000005.9(NM_003052.4):c.1006+1G>A (SLC34A1))
Individual ID |
00248174 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.176820765G>A |
DNA change (hg38) |
g.177393764G>A |
Published as |
- |
ISCN |
- |
DB-ID |
SLC34A1_000003 See all 4 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
Owner |
Valeriia Apukhtina |
Database submission license |
No license selected |
Created by |
Valeriia Apukhtina |
Date created |
2019-07-19 15:14:42 +02:00 (CEST) |
Date last edited |
2020-06-18 11:08:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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