683095
Source: NCBI ClinVar (ID 683095)
Source: NCBI ClinVar (ID 683095)
Name: NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala)
Organism: Homo sapiens(human)
Variation type: single nucleotide variant
Location: GRCh38; chr19:40394427-40394427
Sequence ID: NC_000019.10
Svlen: 1bp
HGVS / Genome variation
| LRG_265t1:c.*4130C>G |
| LRG_265t2:c.3925C>G |
| NM_020956.2:c.*4130C>G |
| NM_181882.3:c.3925C>G |
| LRG_265:g.23938C>G |
| NG_007979.1:g.23938C>G |
| NG_051224.1:g.795C>G |
| NC_000019.10:g.40394427G>C |
| NC_000019.9:g.40900334G>C |
| NM_181882.2:c.3925C>G |
| NP_870998.2:p.Pro1309Ala |
Molecular consequence
| NM_020956.2:c.*4130C>G | 3 prime UTR variant | SO:0001624 |
| NM_181882.3:c.3925C>G | missense variant | SO:0001624; SO:0001583 |
Clinical significance: Uncertain significance
Gene(s): PRX