RTL9

Chr X

retrotransposon Gag like 9

Also known as: MAR9, MART9, RGAG1, SIRH10

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.22
LOEUF· LoF intol.
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.22LOEUF
pLI 0.997
Z-score 4.13
OE 0.05 (0.010.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
-0.67Z-score
OE missense 1.08 (1.011.16)
568 obs / 524.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.05 (0.010.22)
00.351.4
Missense OE?1.08 (1.011.16)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 1 / 21.8Missense obs/exp: 568 / 524.9Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RTL9 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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