ANKHD1-DT

Chr 5

ANKHD1 divergent transcript

NCBI Gene: 121232368ENSG00000249637
21
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— ANKHD1-DT
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 16 VUS of 21 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
VUS16
5
Pathogenic
16
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
0
16
0
0
16
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0165021

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

View in ClinVar →

Protein Context — Lollipop Plot

ANKHD1-DT · 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

No publications found for ANKHD1-DT

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