Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) | F5 | Pathogenic | 1 | 169500043 | 169500043 | T | C | criteria provided, single submitter | ClinGen:CA251551,UniProtKB:P12259#VAR_032700,OMIM:612309.0007 |
single nucleotide variant | NM_000130.5(F5):c.2401C>T (p.Gln801Ter) | F5 | Pathogenic | 1 | 169511927 | 169511927 | G | A | criteria provided, single submitter | ClinGen:CA251553,OMIM:612309.0008 |
Duplication | NM_000130.5(F5):c.5037dup (p.Ser1680fs) | F5 | Pathogenic | 1 | 169500194 | 169500195 | A | AT | criteria provided, single submitter | ClinGen:CA1233584 |
single nucleotide variant | NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) | F5 | Pathogenic | 1 | 169498900 | 169498900 | G | A | criteria provided, single submitter | - |
Duplication | NM_000130.5(F5):c.1830_1831dup (p.His611fs) | F5 | Pathogenic/Likely pathogenic | 1 | 169513677 | 169513678 | T | TGC | criteria provided, multiple submitters, no conflicts | - |