c.436delC
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.436delC | “The most frequent variant was a frameshift deletion variant (c.436delC, p.Ala147Hisfs*9) unique to Arabs that was reported in 11 cases from Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia.” | 0.95 | hgvs_regex_v1 |
| variant | c.436delC | “We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene.” | 0.95 | hgvs_regex_v1 |
| variant | c.436delC | “Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister.” | 0.95 | hgvs_regex_v1 |