V74I (p.Val74Ile) variant of GATA1 (Erythroid transcription factor)
V74I (p.Val74Ile) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The record also includes structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64961
- Ensembl rs587776452
- Conflicting interpretations
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available