H30D (p.His30Asp) variant of ABCD1 (P33897)
H30D (p.His30Asp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
H30D (p.His30Asp) variant details
- p.His30Asp
- rs2522263111
- ClinGen CA415097492
- ClinVar RCV003139502
- ClinVar RCV005616609
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)