FAM230A

Chr 22

family with sequence similarity 230 member A

Also known as: DGCR15

NCBI Gene: 653203ENSG00000277870
340
ClinVar variants
319
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FAM230A
📋
ClinVar Variants
319 Pathogenic / Likely Pathogenic· 12 VUS of 340 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

340 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic312
Likely Pathogenic7
VUS12
Likely Benign7
Benign2
312
Pathogenic
7
Likely Pathogenic
12
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————312
Likely Pathogenic
————7
VUS
————12
Likely Benign
————7
Benign
————2
Total—340

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM230A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools