FAM170A

Chr 5

family with sequence similarity 170 member A

Also known as: ZNFD

NCBI Gene: 340069ENSG00000164334UniProt: A1A519

Predicted to enable DNA binding activity and zinc ion binding activity. Involved in positive regulation of DNA-templated transcription and transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

107
ClinVar variants
21
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FAM170A
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 77 VUS of 107 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

107 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic2
VUS77
Likely Benign9
19
Pathogenic
2
Likely Pathogenic
77
VUS
9
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
2
0
2
VUS
0
70
7
0
77
Likely Benign
0
8
1
0
9
Benign
0
0
0
0
0
Total078290107

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM170A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
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
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