ANKRD20A4-ANKRD20A20P

Chr 9

ANKRD20A4-ANKRD20A20P readthrough

This locus represents naturally-occurring readthrough transcription between ankyrin repeat domain 20 family member A4 (ANKRD20A4) and ankyrin repeat domain 20 family member A20, pseudogene (ANKRD20A20P). Readthrough transcripts are expected to be candidates for nonsense-mediated decay (NMD) and are unlikely to be translated into functional proteins. [provided by RefSeq, Mar 2017]

25
ClinVar variants
20
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryANKRD20A4-ANKRD20A20P
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic of 25 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ANKRD20A4-ANKRD20A20P?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Likely Benign4
Benign1
19
Pathogenic
1
Likely Pathogenic
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
0
0
0
0
Likely Benign
0
0
4
0
4
Benign
0
0
1
0
1
Total0025025

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

View in ClinVar →

Protein Context — Lollipop Plot

ANKRD20A4-ANKRD20A20P · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.