HGMD Professional

Exhaustive, expert-curated database of germline mutations underlying inherited human diseases.

Key Info

• URL: https://www.hgmd.cf.ac.uk/
• Category: Clinical
• API: Yes
• Free: Paid
• ACMG Relevance: PS4, PM5, PP5

Why It Matters

Contains over 575,000 continuously updated mutations; the public version is delayed by three years, making the Pro version essential for labs.

How to Use

See https://www.hgmd.cf.ac.uk/ for documentation and access.

STRC Research Usage

NOT TESTED — requires paid professional subscription. Contains 575K+ curated disease mutations. Would need institutional access.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]