Variant #0000873894 (NC_000009.11:g.34647528G>C, NM_000155.3:c.292G>C (GALT))
| Individual ID |
00414704 |
| Chromosome |
9 |
| 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.34647528G>C |
| DNA change (hg38) |
g.34647531G>C |
| Published as |
GALT exon 3, c.292G>C, D98H, chr9:34637528G>C (hg18) CM910169 |
| ISCN |
- |
| DB-ID |
GALT_000025 |
| Variant remarks |
causative, homozygous |
| Reference |
PubMed: Bell 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-02 11:28:48 +02:00 (CEST) |
| Date last edited |
2022-08-02 11:29:23 +02:00 (CEST) |

Variant on transcripts
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