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1 records shown · first 60A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
PMID 42353838 | PMCID PMC13300355 | DOI 10.3390/genes17060679 · Genes · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.2050G>A | “Autosomal recessive forms are extremely rare and have been reported predominantly in families from Saudi Arabia carrying the homozygous COL1A1 missense variant c.2050G>A, p.(Glu684Lys), with clinical presentations ranging from severe to mild.” | 0.95 | hgvs_regex_v1 |
| gene | COL1A1 | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |